| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127660034T>A | CA118454 | STXBP1 | c.209T>A (p.Val70Asp) c.251T>A (p.Val84Asp) c.274T>A (p.Ser92Thr) c.*1115T>A (n.*1115T>A) c.193T>A c.140T>A (p.Val47Asp) | ClinVar dbSNP |
| 9 | g.127660034T= | CA1879905842 | STXBP1 | c.209T= (p.Val70=) c.251T= (p.Val84=) c.274T= (p.Ser92=) c.*1115T= (n.*1115T=) c.193T= c.140T= (p.Val47=) | dbSNP |