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3.2.2

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@MichaelStromberg MichaelStromberg released this 27 Aug 00:21

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)