| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.67181297G>A | CA020100 | SMAD3 | c.130G>A (p.Glu44Lys) c.400G>A (p.Glu134Lys) c.715G>A (p.Glu239Lys) n.418G>A c.583G>A (p.Glu195Lys) n.282+6713G>A c.568G>A (p.Glu190Lys) | ClinVar dbSNP COSMIC COSMIC |
| 15 | g.67181297G>T | CA392956020 | SMAD3 | c.130G>T (p.Glu44Ter) c.400G>T (p.Glu134Ter) c.715G>T (p.Glu239Ter) n.418G>T c.583G>T (p.Glu195Ter) n.282+6713G>T c.568G>T (p.Glu190Ter) | ClinVar dbSNP COSMIC COSMIC |
| 15 | g.67181297G= | CA2184414586 | SMAD3 | c.130G= (p.Glu44=) c.400G= (p.Glu134=) c.715G= (p.Glu239=) n.418G= c.583G= (p.Glu195=) n.282+6713G= c.568G= (p.Glu190=) | dbSNP |