| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.67164969G>T | CA16043497 | SMAD3 | c.-35G>T (n.-35G>T) c.281G>T (p.Trp94Leu) c.149G>T (p.Trp50Leu) c.226G>T (p.Gly76Cys) n.131G>T c.134G>T (p.Trp45Leu) | ClinVar dbSNP gnomAD v4 |
| 15 | g.67164969G>A | CA392953913 | SMAD3 | c.-35G>A (n.-35G>A) c.281G>A (p.Trp94Ter) c.149G>A (p.Trp50Ter) c.226G>A (p.Gly76Ser) n.131G>A c.134G>A (p.Trp45Ter) | ClinVar dbSNP COSMIC COSMIC |