| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127663314G>A | CA118450 | STXBP1 | c.497G>A (p.Cys166Tyr) c.539G>A (p.Cys180Tyr) c.*181G>A (n.*181G>A) c.*1403G>A (n.*1403G>A) c.481G>A c.183G>A n.375G>A c.530G>A (p.Cys177Tyr) | ClinVar dbSNP |
| 9 | g.127663314G= | CA1879908395 | STXBP1 | c.497G= (p.Cys166=) c.539G= (p.Cys180=) c.*181G= (n.*181G=) c.*1403G= (n.*1403G=) c.481G= c.183G= n.375G= c.530G= (p.Cys177=) | dbSNP |