| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.67181453G>A | CA020150 | SMAD3 | c.286G>A (p.Gly96Arg) c.556G>A (p.Gly186Arg) c.871G>A (p.Gly291Arg) n.574G>A c.739G>A (p.Gly247Arg) n.282+6869G>A c.724G>A (p.Gly242Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.67181453G>T | CA392956433 | SMAD3 | c.286G>T (p.Gly96Ter) c.556G>T (p.Gly186Ter) c.871G>T (p.Gly291Ter) n.574G>T c.739G>T (p.Gly247Ter) n.282+6869G>T c.724G>T (p.Gly242Ter) | ClinVar dbSNP gnomAD v4 |