Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.161781951A>GCA1214124ATF6c.199A>G (p.Met67Val)
c.82+15509A>G (n.82+15509A>G)
n.239A>G
c.1A>G (p.Met1Val)
c.*51A>G (n.*51A>G)
c.195A>G (p.Ter65Trp)
n.249A>G
c.-30-9457A>G (n.-30-9457A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.161781951A>TCA31726544ATF6c.199A>T (p.Met67Leu)
c.82+15509A>T (n.82+15509A>T)
n.239A>T
c.1A>T (p.Met1Leu)
c.*51A>T (n.*51A>T)
c.195A>T (p.Ter65Cys)
n.249A>T
c.-30-9457A>T (n.-30-9457A>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched