| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136517826C>G | CA375563057 | NOTCH1 | c.1367G>C (p.Cys456Ser) c.*603G>C (n.*603G>C) c.668G>C (p.Cys223Ser) c.644G>C (p.Cys215Ser) | dbSNP |
| 9 | g.136517826C>A | CA375563056 | NOTCH1 | c.1367G>T (p.Cys456Phe) c.*603G>T (n.*603G>T) c.668G>T (p.Cys223Phe) c.644G>T (p.Cys215Phe) | dbSNP |
| 9 | g.136517826C>T | CA349951 | NOTCH1 | c.1367G>A (p.Cys456Tyr) c.*603G>A (n.*603G>A) c.668G>A (p.Cys223Tyr) c.644G>A (p.Cys215Tyr) | ClinVar dbSNP COSMIC COSMIC |