| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127672090C>T | CA374935919 | STXBP1 | c.961C>T (p.Pro321Ser) c.1003C>T (p.Pro335Ser) c.*645C>T (n.*645C>T) c.*1867C>T (n.*1867C>T) c.945C>T n.839C>T c.994C>T (p.Pro332Ser) c.895C>T (p.Pro299Ser) | ClinVar dbSNP |
| 9 | g.127672090C= | CA1879916846 | STXBP1 | c.961C= (p.Pro321=) c.1003C= (p.Pro335=) c.*645C= (n.*645C=) c.*1867C= (n.*1867C=) c.945C= n.839C= c.994C= (p.Pro332=) c.895C= (p.Pro299=) | dbSNP |