Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.104057158C>GCA378073259COL17A1c.1282G>C (p.Gly428Arg)
c.1234G>C (p.Gly412Arg)
dbSNP
10g.104057158C>TCA5679079COL17A1c.1282G>A (p.Gly428Ser)
c.1234G>A (p.Gly412Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched