| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63444747C>T | CA10654826 | KCNQ2 | c.602G>A (p.Arg201His) n.340G>A c.83G>A (p.Arg28His) c.260G>A (p.Arg87His) n.728G>A n.444G>A c.23G>A (p.Arg8His) n.427G>A c.533G>A (p.Arg178His) | ClinVar dbSNP |
| 20 | g.63444747C= | CA2374796126 | KCNQ2 | c.602G= (p.Arg201=) n.340G= c.83G= (p.Arg28=) c.260G= (p.Arg87=) n.728G= n.444G= c.23G= (p.Arg8=) n.427G= c.533G= (p.Arg178=) | dbSNP |