| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30691486G>A | CA020734 | TGFBR2 | c.1591G>A (p.Ala531Thr) n.475G>A n.3187G>A n.469G>A c.1666G>A (p.Ala556Thr) c.1618G>A (p.Ala540Thr) c.1543G>A (p.Ala515Thr) c.1486G>A (p.Ala496Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30691486G>C | CA351809618 | TGFBR2 | c.1591G>C (p.Ala531Pro) n.475G>C n.3187G>C n.469G>C c.1666G>C (p.Ala556Pro) c.1618G>C (p.Ala540Pro) c.1543G>C (p.Ala515Pro) c.1486G>C (p.Ala496Pro) | dbSNP |
| 3 | g.30691486G= | CA1354881691 | TGFBR2 | c.1591G= (p.Ala531=) n.475G= n.3187G= n.469G= c.1666G= (p.Ala556=) c.1618G= (p.Ala540=) c.1543G= (p.Ala515=) c.1486G= (p.Ala496=) | dbSNP |