| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.67181264G>T | CA392955879 | SMAD3 | c.97G>T (p.Glu33Ter) c.367G>T (p.Glu123Ter) c.682G>T (p.Glu228Ter) n.385G>T c.550G>T (p.Glu184Ter) n.282+6680G>T c.535G>T (p.Glu179Ter) | dbSNP gnomAD v4 |
| 15 | g.67181264G>A | CA320833 | SMAD3 | c.97G>A (p.Glu33Lys) c.367G>A (p.Glu123Lys) c.682G>A (p.Glu228Lys) n.385G>A c.550G>A (p.Glu184Lys) n.282+6680G>A c.535G>A (p.Glu179Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.67181264G= | CA2184414535 | SMAD3 | c.97G= (p.Glu33=) c.367G= (p.Glu123=) c.682G= (p.Glu228=) n.385G= c.550G= (p.Glu184=) n.282+6680G= c.535G= (p.Glu179=) | dbSNP |