| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63433842T>C | CA10654795 | KCNQ2 | c.1085A>G (p.Tyr362Cys) n.823A>G c.566A>G (p.Tyr189Cys) n.35A>G c.743A>G (p.Tyr248Cys) n.1211A>G n.436A>G c.229A>G c.558A>G (n.558A>G) c.959A>G (p.Tyr320Cys) c.1016A>G (p.Tyr339Cys) | ClinVar dbSNP |
| 20 | g.63433842T= | CA2374788903 | KCNQ2 | c.1085A= (p.Tyr362=) n.823A= c.566A= (p.Tyr189=) n.35A= c.743A= (p.Tyr248=) n.1211A= n.436A= c.229A= c.558A= (n.558A=) c.959A= (p.Tyr320=) c.1016A= (p.Tyr339=) | dbSNP |