| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.67181403T>C | CA323399 | SMAD3 | c.236T>C (p.Leu79Pro) c.506T>C (p.Leu169Pro) c.821T>C (p.Leu274Pro) n.524T>C c.689T>C (p.Leu230Pro) n.282+6819T>C c.674T>C (p.Leu225Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.67181403T>A | CA392956332 | SMAD3 | c.236T>A (p.Leu79His) c.506T>A (p.Leu169His) c.821T>A (p.Leu274His) n.524T>A c.689T>A (p.Leu230His) n.282+6819T>A c.674T>A (p.Leu225His) | ClinVar dbSNP |
| 15 | g.67181403T= | CA2184414904 | SMAD3 | c.236T= (p.Leu79=) c.506T= (p.Leu169=) c.821T= (p.Leu274=) n.524T= c.689T= (p.Leu230=) n.282+6819T= c.674T= (p.Leu225=) | dbSNP |