| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63442507C>G | CA10654819 | KCNQ2 | c.715G>C (p.Gly239Arg) n.453G>C c.196G>C (p.Gly66Arg) n.95G>C c.373G>C (p.Gly125Arg) n.841G>C c.80G>C c.136G>C (p.Gly46Arg) n.540G>C c.690+2152G>C (n.690+2152G>C) c.646G>C (p.Gly216Arg) | ClinVar dbSNP |
| 20 | g.63442507C>T | CA409654025 | KCNQ2 | c.715G>A (p.Gly239Ser) n.453G>A c.196G>A (p.Gly66Ser) n.95G>A c.373G>A (p.Gly125Ser) n.841G>A c.80G>A c.136G>A (p.Gly46Ser) n.540G>A c.690+2152G>A (n.690+2152G>A) c.646G>A (p.Gly216Ser) | ClinVar dbSNP |
| 20 | g.63442507C= | CA2374793533 | KCNQ2 | c.715G= (p.Gly239=) n.453G= c.196G= (p.Gly66=) n.95G= c.373G= (p.Gly125=) n.841G= c.80G= c.136G= (p.Gly46=) n.540G= c.690+2152G= (n.690+2152G=) c.646G= (p.Gly216=) | dbSNP |