| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63433897A>G | CA10654802 | KCNQ2 | c.1030T>C (p.Trp344Arg) n.768T>C c.511T>C (p.Trp171Arg) c.688T>C (p.Trp230Arg) n.1156T>C n.381T>C c.174T>C c.503T>C (n.503T>C) c.904T>C (p.Trp302Arg) c.961T>C (p.Trp321Arg) | ClinVar dbSNP |
| 20 | g.63433897A= | CA2374788938 | KCNQ2 | c.1030T= (p.Trp344=) n.768T= c.511T= (p.Trp171=) c.688T= (p.Trp230=) n.1156T= n.381T= c.174T= c.503T= (n.503T=) c.904T= (p.Trp302=) c.961T= (p.Trp321=) | dbSNP dbSNP |