| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.67181315G>A | CA323714 | SMAD3 | c.148G>A (p.Gly50Arg) c.418G>A (p.Gly140Arg) c.733G>A (p.Gly245Arg) n.436G>A c.601G>A (p.Gly201Arg) n.282+6731G>A c.586G>A (p.Gly196Arg) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 15 | g.67181315G>C | CA392956090 | SMAD3 | c.148G>C (p.Gly50Arg) c.418G>C (p.Gly140Arg) c.733G>C (p.Gly245Arg) n.436G>C c.601G>C (p.Gly201Arg) n.282+6731G>C c.586G>C (p.Gly196Arg) | ClinVar dbSNP |