| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30691478G>A | CA020730 | TGFBR2 | c.1583G>A (p.Arg528His) n.467G>A n.3179G>A n.461G>A c.1658G>A (p.Arg553His) c.1610G>A (p.Arg537His) c.1535G>A (p.Arg512His) c.1478G>A (p.Arg493His) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30691478G>C | CA351809605 | TGFBR2 | c.1583G>C (p.Arg528Pro) n.467G>C n.3179G>C n.461G>C c.1658G>C (p.Arg553Pro) c.1610G>C (p.Arg537Pro) c.1535G>C (p.Arg512Pro) c.1478G>C (p.Arg493Pro) | dbSNP |
| 3 | g.30691478G= | CA1354881686 | TGFBR2 | c.1583G= (p.Arg528=) n.467G= n.3179G= n.461G= c.1658G= (p.Arg553=) c.1610G= (p.Arg537=) c.1535G= (p.Arg512=) c.1478G= (p.Arg493=) | dbSNP |