| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136517908A>T | CA375563451 | NOTCH1 | c.1285T>A (p.Cys429Ser) c.*521T>A (n.*521T>A) c.586T>A (p.Cys196Ser) c.562T>A (p.Cys188Ser) | dbSNP COSMIC COSMIC |
| 9 | g.136517908A>G | CA211323 | NOTCH1 | c.1285T>C (p.Cys429Arg) c.*521T>C (n.*521T>C) c.586T>C (p.Cys196Arg) c.562T>C (p.Cys188Arg) | ClinVar dbSNP |