| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.119967555C>T | CA340897 | NOTCH2 | c.1331G>A (p.Cys444Tyr) c.551G>A (n.551G>A) n.1469G>A c.1214G>A (p.Cys405Tyr) c.1319G>A (p.Cys440Tyr) | ClinVar dbSNP |
| 1 | g.119967555C= | CA1141189145 | NOTCH2 | c.1331G= (p.Cys444=) c.551G= (n.551G=) n.1469G= c.1214G= (p.Cys405=) c.1319G= (p.Cys440=) | dbSNP |