| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127672099C>T | CA16042633 | STXBP1 | c.970C>T (p.Gln324Ter) c.1012C>T (p.Gln338Ter) c.*654C>T (n.*654C>T) c.*1876C>T (n.*1876C>T) c.954C>T n.848C>T c.1003C>T (p.Gln335Ter) c.904C>T (p.Gln302Ter) | ClinVar dbSNP |
| 9 | g.127672099C= | CA1879916850 | STXBP1 | c.970C= (p.Gln324=) c.1012C= (p.Gln338=) c.*654C= (n.*654C=) c.*1876C= (n.*1876C=) c.954C= n.848C= c.1003C= (p.Gln335=) c.904C= (p.Gln302=) | dbSNP |