Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.161781951A>G | CA1214124 | ATF6 | c.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 |
1 | g.161781951A>T | CA31726544 | ATF6 | c.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 |