Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51920831C>TCA119404ACVRL1c.1180C>T (p.Arg394Trp)
c.1450C>T (p.Arg484Trp)
c.928C>T (p.Arg310Trp)
c.1492C>T (p.Arg498Trp)
c.661C>T (p.Arg221Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51920831C>GCA384905800ACVRL1c.1180C>G (p.Arg394Gly)
c.1450C>G (p.Arg484Gly)
c.928C>G (p.Arg310Gly)
c.1492C>G (p.Arg498Gly)
c.661C>G (p.Arg221Gly)
ClinVar dbSNP
12g.51920831C>ACA479816861ACVRL1c.1180C>A (p.Arg394=)
c.1450C>A (p.Arg484=)
c.928C>A (p.Arg310=)
c.1492C>A (p.Arg498=)
c.661C>A (p.Arg221=)
ClinVar dbSNP gnomAD v4

Number of alleles fetched