| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127661161A>C | CA16612587 | STXBP1 | c.343A>C (p.Thr115Pro) c.385A>C (p.Thr129Pro) c.*27A>C (n.*27A>C) c.*1249A>C (n.*1249A>C) c.327A>C c.29A>C c.274A>C (p.Thr92Pro) c.376A>C (p.Thr126Pro) | ClinVar dbSNP |
| 9 | g.127661161A= | CA1879906731 | STXBP1 | c.343A= (p.Thr115=) c.385A= (p.Thr129=) c.*27A= (n.*27A=) c.*1249A= (n.*1249A=) c.327A= c.29A= c.274A= (p.Thr92=) c.376A= (p.Thr126=) | dbSNP |