| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127661196T>A | CA16618738 | STXBP1 | c.378T>A (p.Tyr126Ter) c.420T>A (p.Tyr140Ter) c.*62T>A (n.*62T>A) c.*1284T>A (n.*1284T>A) c.362T>A c.64T>A c.411T>A (p.Tyr137Ter) | ClinVar dbSNP |
| 9 | g.127661196T= | CA1879906775 | STXBP1 | c.378T= (p.Tyr126=) c.420T= (p.Tyr140=) c.*62T= (n.*62T=) c.*1284T= (n.*1284T=) c.362T= c.64T= c.411T= (p.Tyr137=) | dbSNP |