| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136517800C>A | CA375562966 | NOTCH1 | c.1393G>T (p.Ala465Ser) c.*629G>T (n.*629G>T) c.694G>T (p.Ala232Ser) c.670G>T (p.Ala224Ser) | dbSNP |
| 9 | g.136517800C>T | CA16605792 | NOTCH1 | c.1393G>A (p.Ala465Thr) c.*629G>A (n.*629G>A) c.694G>A (p.Ala232Thr) c.670G>A (p.Ala224Thr) | ClinVar dbSNP COSMIC COSMIC |
| 9 | g.136517800C>G | CA375562967 | NOTCH1 | c.1393G>C (p.Ala465Pro) c.*629G>C (n.*629G>C) c.694G>C (p.Ala232Pro) c.670G>C (p.Ala224Pro) | dbSNP |