| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136497391G>C | CA16043671 | NOTCH1 | c.6348C>G (p.Tyr2116Ter) c.*1388C>G (n.*1388C>G) n.2944C>G n.2680C>G c.6234C>G (p.Tyr2078Ter) c.6228C>G (p.Tyr2076Ter) c.3945C>G (p.Tyr1315Ter) c.*3748C>G (n.*3748C>G) c.*3957C>G (n.*3957C>G) n.4453C>G c.*5584C>G (n.*5584C>G) c.5649C>G (p.Tyr1883Ter) c.5625C>G (p.Tyr1875Ter) | ClinVar dbSNP |
| 9 | g.136497391G= | CA1884231413 | NOTCH1 | c.6348C= (p.Tyr2116=) c.*1388C= (n.*1388C=) n.2944C= n.2680C= c.6234C= (p.Tyr2078=) c.6228C= (p.Tyr2076=) c.3945C= (p.Tyr1315=) c.*3748C= (n.*3748C=) c.*3957C= (n.*3957C=) n.4453C= c.*5584C= (n.*5584C=) c.5649C= (p.Tyr1883=) c.5625C= (p.Tyr1875=) | dbSNP |