| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136516001dup | CA348000 | NOTCH1 | c.1649dup (p.Tyr550Ter) c.1535dup (p.Tyr512Ter) c.1556-285dup (n.1556-285dup) c.*885dup (n.*885dup) c.950dup (p.Tyr317Ter) c.926dup (p.Tyr309Ter) | ClinVar dbSNP |
| 9 | g.136516001T= | CA3165601233 | NOTCH1 | c.1649A= (p.Tyr550=) c.1535A= (p.Tyr512=) c.1556-285A= (n.1556-285A=) c.*885A= (n.*885A=) c.950A= (p.Tyr317=) c.926A= (p.Tyr309=) | dbSNP |