| 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 |
| 15 | g.67181453G= | CA2184414990 | SMAD3 | c.286G= (p.Gly96=) c.556G= (p.Gly186=) c.871G= (p.Gly291=) n.574G= c.739G= (p.Gly247=) n.282+6869G= c.724G= (p.Gly242=) | dbSNP |
| 15 | g.67181453G>C | CA392956434 | SMAD3 | c.286G>C (p.Gly96Arg) c.556G>C (p.Gly186Arg) c.871G>C (p.Gly291Arg) n.574G>C c.739G>C (p.Gly247Arg) n.282+6869G>C c.724G>C (p.Gly242Arg) | ClinVar dbSNP |