| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127673233C>T | CA16043619 | STXBP1 | c.1040C>T (p.Thr347Ile) c.1082C>T (p.Thr361Ile) c.*724C>T (n.*724C>T) c.*1946C>T (n.*1946C>T) c.1024C>T n.918C>T c.1073C>T (p.Thr358Ile) c.974C>T (p.Thr325Ile) | ClinVar dbSNP |
| 9 | g.127673233C>A | CA374936213 | STXBP1 | c.1040C>A (p.Thr347Asn) c.1082C>A (p.Thr361Asn) c.*724C>A (n.*724C>A) c.*1946C>A (n.*1946C>A) c.1024C>A n.918C>A c.1073C>A (p.Thr358Asn) c.974C>A (p.Thr325Asn) | dbSNP |