| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136517850C>T | CA348264 | NOTCH1 | c.1343G>A (p.Arg448Gln) c.*579G>A (n.*579G>A) c.644G>A (p.Arg215Gln) c.620G>A (p.Arg207Gln) | ClinVar dbSNP |
| 9 | g.136517850C>G | CA375563138 | NOTCH1 | c.1343G>C (p.Arg448Pro) c.*579G>C (n.*579G>C) c.644G>C (p.Arg215Pro) c.620G>C (p.Arg207Pro) | dbSNP |