| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136517848A>T | CA375563136 | NOTCH1 | c.1345T>A (p.Cys449Ser) c.*581T>A (n.*581T>A) c.646T>A (p.Cys216Ser) c.622T>A (p.Cys208Ser) | dbSNP |
| 9 | g.136517848A>C | CA375563134 | NOTCH1 | c.1345T>G (p.Cys449Gly) c.*581T>G (n.*581T>G) c.646T>G (p.Cys216Gly) c.622T>G (p.Cys208Gly) | dbSNP |
| 9 | g.136517848A>G | CA349327 | NOTCH1 | c.1345T>C (p.Cys449Arg) c.*581T>C (n.*581T>C) c.646T>C (p.Cys216Arg) c.622T>C (p.Cys208Arg) | ClinVar dbSNP |