| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63439614A>C | CA409652485 | KCNQ2 | c.911T>G (p.Phe304Cys) n.649T>G c.392T>G (p.Phe131Cys) c.569T>G (p.Phe190Cys) n.1037T>G c.276T>G c.55T>G c.414T>G (p.Leu138=) n.736T>G c.785T>G (p.Phe262Cys) c.842T>G (p.Phe281Cys) | ClinVar dbSNP |
| 20 | g.63439614A>G | CA10654808 | KCNQ2 | c.911T>C (p.Phe304Ser) n.649T>C c.392T>C (p.Phe131Ser) c.569T>C (p.Phe190Ser) n.1037T>C c.276T>C c.55T>C c.414T>C (p.Leu138=) n.736T>C c.785T>C (p.Phe262Ser) c.842T>C (p.Phe281Ser) | ClinVar dbSNP |