| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127666236A>G | CA173637 | STXBP1 | c.692A>G (p.His231Arg) c.734A>G (p.His245Arg) c.*376A>G (n.*376A>G) c.*1598A>G (n.*1598A>G) c.676A>G n.570A>G c.725A>G (p.His242Arg) | ClinVar dbSNP |
| 9 | g.127666236A= | CA1879911662 | STXBP1 | c.692A= (p.His231=) c.734A= (p.His245=) c.*376A= (n.*376A=) c.*1598A= (n.*1598A=) c.676A= n.570A= c.725A= (p.His242=) | dbSNP |