| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63439674T>C | CA340673 | KCNQ2 | c.851A>G (p.Tyr284Cys) n.589A>G c.332A>G (p.Tyr111Cys) c.509A>G (p.Tyr170Cys) n.977A>G c.216A>G c.354A>G (p.Val118=) n.676A>G c.725A>G (p.Tyr242Cys) c.782A>G (p.Tyr261Cys) | ClinVar dbSNP |
| 20 | g.63439674T= | CA2374791967 | KCNQ2 | c.851A= (p.Tyr284=) n.589A= c.332A= (p.Tyr111=) c.509A= (p.Tyr170=) n.977A= c.216A= c.354A= (p.Val118=) n.676A= c.725A= (p.Tyr242=) c.782A= (p.Tyr261=) | dbSNP |