| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63433870G>C | CA342460 | KCNQ2 | c.1057C>G (p.Arg353Gly) n.795C>G c.538C>G (p.Arg180Gly) n.7C>G c.715C>G (p.Arg239Gly) n.1183C>G n.408C>G c.201C>G c.530C>G (n.530C>G) c.931C>G (p.Arg311Gly) c.988C>G (p.Arg330Gly) | ClinVar dbSNP |
| 20 | g.63433870G>A | CA315430 | KCNQ2 | c.1057C>T (p.Arg353Cys) n.795C>T c.538C>T (p.Arg180Cys) n.7C>T c.715C>T (p.Arg239Cys) n.1183C>T n.408C>T c.201C>T c.530C>T (n.530C>T) c.931C>T (p.Arg311Cys) c.988C>T (p.Arg330Cys) | ClinVar dbSNP |
| 20 | g.63433870G= | CA2374788923 | KCNQ2 | c.1057C= (p.Arg353=) n.795C= c.538C= (p.Arg180=) n.7C= c.715C= (p.Arg239=) n.1183C= n.408C= c.201C= c.530C= (n.530C=) c.931C= (p.Arg311=) c.988C= (p.Arg330=) | dbSNP |