| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127663208T>C | CA173642 | STXBP1 | c.391T>C (p.Tyr131His) c.433T>C (p.Tyr145His) c.*75T>C (n.*75T>C) c.*1297T>C (n.*1297T>C) c.375T>C c.77T>C n.269T>C c.424T>C (p.Tyr142His) | ClinVar dbSNP |
| 9 | g.127663208T= | CA1879908314 | STXBP1 | c.391T= (p.Tyr131=) c.433T= (p.Tyr145=) c.*75T= (n.*75T=) c.*1297T= (n.*1297T=) c.375T= c.77T= n.269T= c.424T= (p.Tyr142=) | dbSNP |