| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127651653G>A | CA318843 | STXBP1 | c.45+1G>A (n.45+1G>A) c.87+1G>A (n.87+1G>A) c.29+1G>A c.-25+1G>A (n.-25+1G>A) | ClinVar dbSNP |
| 9 | g.127651653G= | CA1879898430 | STXBP1 | c.45+1G= (n.45+1G=) c.87+1G= (n.87+1G=) c.29+1G= c.-25+1G= (n.-25+1G=) | dbSNP |