| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30688511G>T | CA351809466 | TGFBR2 | c.1524G>T (p.Gln508His) n.408G>T n.3120G>T n.402G>T c.1599G>T (p.Gln533His) c.1551G>T (p.Gln517His) c.1476G>T (p.Gln492His) c.1419G>T (p.Gln473His) | dbSNP |
| 3 | g.30688511G>C | CA351809465 | TGFBR2 | c.1524G>C (p.Gln508His) n.408G>C n.3120G>C n.402G>C c.1599G>C (p.Gln533His) c.1551G>C (p.Gln517His) c.1476G>C (p.Gln492His) c.1419G>C (p.Gln473His) | dbSNP |
| 3 | g.30688511G>A | CA020701 | TGFBR2 | c.1524G>A (p.Gln508=) n.408G>A n.3120G>A n.402G>A c.1599G>A (p.Gln533=) c.1551G>A (p.Gln517=) c.1476G>A (p.Gln492=) c.1419G>A (p.Gln473=) | ClinVar dbSNP |