| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127651649G>A | CA16618736 | STXBP1 | c.42G>A (p.Trp14Ter) c.84G>A (p.Trp28Ter) c.26G>A c.-28G>A (n.-28G>A) | ClinVar dbSNP |
| 9 | g.127651649G= | CA1879898401 | STXBP1 | c.42G= (p.Trp14=) c.84G= (p.Trp28=) c.26G= c.-28G= (n.-28G=) | dbSNP |