| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136497539A>G | CA236334 | NOTCH1 | c.6200T>C (p.Leu2067Pro) c.*1240T>C (n.*1240T>C) n.2796T>C n.2532T>C c.6086T>C (p.Leu2029Pro) c.6080T>C (p.Leu2027Pro) c.3797T>C (p.Leu1266Pro) c.*3600T>C (n.*3600T>C) c.*3809T>C (n.*3809T>C) n.4305T>C c.*5436T>C (n.*5436T>C) c.5501T>C (p.Leu1834Pro) c.5477T>C (p.Leu1826Pro) | ClinVar dbSNP |
| 9 | g.136497539A= | CA1884231546 | NOTCH1 | c.6200T= (p.Leu2067=) c.*1240T= (n.*1240T=) n.2796T= n.2532T= c.6086T= (p.Leu2029=) c.6080T= (p.Leu2027=) c.3797T= (p.Leu1266=) c.*3600T= (n.*3600T=) c.*3809T= (n.*3809T=) n.4305T= c.*5436T= (n.*5436T=) c.5501T= (p.Leu1834=) c.5477T= (p.Leu1826=) | dbSNP |