| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127666245C>T | CA16606218 | STXBP1 | c.701C>T (p.Thr234Ile) c.743C>T (p.Thr248Ile) c.*385C>T (n.*385C>T) c.*1607C>T (n.*1607C>T) c.685C>T n.579C>T c.734C>T (p.Thr245Ile) | ClinVar dbSNP |
| 9 | g.127666245C= | CA1879911668 | STXBP1 | c.701C= (p.Thr234=) c.743C= (p.Thr248=) c.*385C= (n.*385C=) c.*1607C= (n.*1607C=) c.685C= n.579C= c.734C= (p.Thr245=) | dbSNP |