| 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 |
| 20 | g.63439614A>T | CA409652487 | KCNQ2 | c.911T>A (p.Phe304Tyr) n.649T>A c.392T>A (p.Phe131Tyr) c.569T>A (p.Phe190Tyr) n.1037T>A c.276T>A c.55T>A c.414T>A (p.Leu138=) n.736T>A c.785T>A (p.Phe262Tyr) c.842T>A (p.Phe281Tyr) | ClinVar dbSNP |
| 20 | g.63439614A= | CA2374791934 | KCNQ2 | c.911T= (p.Phe304=) n.649T= c.392T= (p.Phe131=) c.569T= (p.Phe190=) n.1037T= c.276T= c.55T= c.414T= (p.Leu138=) n.736T= c.785T= (p.Phe262=) c.842T= (p.Phe281=) | dbSNP |