| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127666197T>A | CA374933817 | STXBP1 | c.653T>A (p.Ile218Asn) c.695T>A (p.Ile232Asn) c.*337T>A (n.*337T>A) c.*1559T>A (n.*1559T>A) c.637T>A n.531T>A c.686T>A (p.Ile229Asn) | ClinVar dbSNP |
| 9 | g.127666197T= | CA1879911276 | STXBP1 | c.653T= (p.Ile218=) c.695T= (p.Ile232=) c.*337T= (n.*337T=) c.*1559T= (n.*1559T=) c.637T= n.531T= c.686T= (p.Ile229=) | dbSNP |