Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51916108G>ACA16614168ACVRL1c.851G>A (p.Arg284Gln)
c.1121G>A (p.Arg374Gln)
c.599G>A (p.Arg200Gln)
n.396G>A
c.1163G>A (p.Arg388Gln)
c.126G>A
c.332G>A (p.Arg111Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51916108G>CCA384902407ACVRL1c.851G>C (p.Arg284Pro)
c.1121G>C (p.Arg374Pro)
c.599G>C (p.Arg200Pro)
n.396G>C
c.1163G>C (p.Arg388Pro)
c.126G>C
c.332G>C (p.Arg111Pro)
ClinVar dbSNP

Number of alleles fetched