3.2.2
Description
- PATCH: Amino acid trimming, HGVS g. notation, affected positions (cDNA, CDS, and protein)
Data sources
- Ensembl build 91 (originally from VEP)
- RefSeq build 91 (originally from VEP)
- ClinVar (2019-02-04)
- COSMIC (v84)
- dbSNP (v151)
- 1000 Genomes Project (Phase 3 v5a)
- ExAC pLI, pNull, pRec (0.3.1)
- gnomAD (2.1)
- MITOMAP (2019-02-25)
- phyloP (2009-11-10)
- DGV (2016-05-15)
- ClinGen (2016-04-14)
- OMIM (2019-02-25)