| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.67187457C>A | CA061596 | SMAD3 | c.517C>A (p.Arg173=) c.787C>A (p.Arg263=) c.1213C>A (p.Arg405=) c.1102C>A (p.Arg368=) n.805C>A c.970C>A (p.Arg324=) n.796C>A n.283-5416C>A c.294C>A c.955C>A (p.Arg319=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.67187457C>G | CA392958253 | SMAD3 | c.517C>G (p.Arg173Gly) c.787C>G (p.Arg263Gly) c.1213C>G (p.Arg405Gly) c.1102C>G (p.Arg368Gly) n.805C>G c.970C>G (p.Arg324Gly) n.796C>G n.283-5416C>G c.294C>G c.955C>G (p.Arg319Gly) | ClinVar dbSNP |
| 15 | g.67187457C>T | CA16619995 | SMAD3 | c.517C>T (p.Arg173Ter) c.787C>T (p.Arg263Ter) c.1213C>T (p.Arg405Ter) c.1102C>T (p.Arg368Ter) n.805C>T c.970C>T (p.Arg324Ter) n.796C>T n.283-5416C>T c.294C>T c.955C>T (p.Arg319Ter) | ClinVar dbSNP COSMIC COSMIC |