| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.67181442G>A | CA020135 | SMAD3 | c.275G>A (p.Arg92Gln) c.545G>A (p.Arg182Gln) c.860G>A (p.Arg287Gln) n.563G>A c.728G>A (p.Arg243Gln) n.282+6858G>A c.713G>A (p.Arg238Gln) | ClinVar dbSNP gnomAD v4 |
| 15 | g.67181442G>T | CA392956411 | SMAD3 | c.275G>T (p.Arg92Leu) c.545G>T (p.Arg182Leu) c.860G>T (p.Arg287Leu) n.563G>T c.728G>T (p.Arg243Leu) n.282+6858G>T c.713G>T (p.Arg238Leu) | ClinVar dbSNP |
| 15 | g.67181442G= | CA2184414967 | SMAD3 | c.275G= (p.Arg92=) c.545G= (p.Arg182=) c.860G= (p.Arg287=) n.563G= c.728G= (p.Arg243=) n.282+6858G= c.713G= (p.Arg238=) | dbSNP |