| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127666269T>C | CA16605551 | STXBP1 | c.725T>C (p.Leu242Pro) c.767T>C (p.Leu256Pro) c.*409T>C (n.*409T>C) c.*1631T>C (n.*1631T>C) c.709T>C n.603T>C c.758T>C (p.Leu253Pro) | ClinVar dbSNP |
| 9 | g.127666269T= | CA1879911716 | STXBP1 | c.725T= (p.Leu242=) c.767T= (p.Leu256=) c.*409T= (n.*409T=) c.*1631T= (n.*1631T=) c.709T= n.603T= c.758T= (p.Leu253=) | dbSNP |