| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.67187472C>T | CA324404 | SMAD3 | c.532C>T (p.Arg178Cys) c.802C>T (p.Arg268Cys) c.1228C>T (p.Arg410Cys) c.1117C>T (p.Arg373Cys) n.820C>T c.985C>T (p.Arg329Cys) n.811C>T n.283-5401C>T c.309C>T c.970C>T (p.Arg324Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.67187472C>A | CA392958287 | SMAD3 | c.532C>A (p.Arg178Ser) c.802C>A (p.Arg268Ser) c.1228C>A (p.Arg410Ser) c.1117C>A (p.Arg373Ser) n.820C>A c.985C>A (p.Arg329Ser) n.811C>A n.283-5401C>A c.309C>A c.970C>A (p.Arg324Ser) | ClinVar dbSNP |