| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30691435T>C | CA020708 | TGFBR2 | c.1540T>C (p.Cys514Arg) n.424T>C n.3136T>C n.418T>C c.1615T>C (p.Cys539Arg) c.1567T>C (p.Cys523Arg) c.1492T>C (p.Cys498Arg) c.1435T>C (p.Cys479Arg) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30691435T>A | CA351809510 | TGFBR2 | c.1540T>A (p.Cys514Ser) n.424T>A n.3136T>A n.418T>A c.1615T>A (p.Cys539Ser) c.1567T>A (p.Cys523Ser) c.1492T>A (p.Cys498Ser) c.1435T>A (p.Cys479Ser) | dbSNP |
| 3 | g.30691435T= | CA1354881661 | TGFBR2 | c.1540T= (p.Cys514=) n.424T= n.3136T= n.418T= c.1615T= (p.Cys539=) c.1567T= (p.Cys523=) c.1492T= (p.Cys498=) c.1435T= (p.Cys479=) | dbSNP |