| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63438692T>C | CA16608023 | KCNQ2 | c.956A>G (p.Lys319Arg) n.694A>G c.437A>G (p.Lys146Arg) c.614A>G (p.Lys205Arg) n.1082A>G c.321A>G c.100A>G c.431-2A>G (n.431-2A>G) n.781A>G c.830A>G (p.Lys277Arg) c.887A>G (p.Lys296Arg) | ClinVar dbSNP |
| 20 | g.63438692T= | CA2374791390 | KCNQ2 | c.956A= (p.Lys319=) n.694A= c.437A= (p.Lys146=) c.614A= (p.Lys205=) n.1082A= c.321A= c.100A= c.431-2A= (n.431-2A=) n.781A= c.830A= (p.Lys277=) c.887A= (p.Lys296=) | dbSNP |