| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136513108del | CA278995 | NOTCH1 | n.187del n.3del c.2380del (p.Glu794SerfsTer8) c.2266del (p.Glu756SerfsTer8) c.*1616del (n.*1616del) c.1681del (p.Glu561SerfsTer8) c.1657del (p.Glu553SerfsTer8) | ClinVar dbSNP |
| 9 | g.136513108C= | CA3165601238 | NOTCH1 | n.187G= n.3G= c.2380G= (p.Glu794=) c.2266G= (p.Glu756=) c.*1616G= (n.*1616G=) c.1681G= (p.Glu561=) c.1657G= (p.Glu553=) | dbSNP dbSNP |