| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136514694del | CA16618804 | NOTCH1 | c.2023del (p.Cys675ValfsTer?) c.1909del (p.Cys637ValfsTer?) c.*1259del (n.*1259del) c.1324del (p.Cys442ValfsTer?) c.1300del (p.Cys434ValfsTer?) | ClinVar dbSNP |
| 9 | g.136514694A= | CA3165535381 | NOTCH1 | c.2023T= (p.Cys675=) c.1909T= (p.Cys637=) c.*1259T= (n.*1259T=) c.1324T= (p.Cys442=) c.1300T= (p.Cys434=) | dbSNP dbSNP |