| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63413524G>C | CA10654782 | KCNQ2 | c.1635C>G (p.Asp545Glu) c.1689C>G (p.Asp563Glu) c.1086C>G (p.Asp362Glu) c.1596C>G (p.Asp532Glu) c.1257C>G (p.Asp419Glu) c.1605C>G (p.Asp535Glu) c.1569C>G (p.Asp523Glu) c.297C>G (p.Asp99Glu) c.1686C>G (p.Asp562Glu) c.1659C>G (p.Asp553Glu) c.1563C>G (p.Asp521Glu) c.1170C>G (p.Asp390Glu) c.1632C>G (p.Asp544Glu) c.1566C>G (p.Asp522Glu) c.597C>G (p.Asp199Glu) | ClinVar dbSNP |
| 20 | g.63413524G>A | CA291801 | KCNQ2 | c.1635C>T (p.Asp545=) c.1689C>T (p.Asp563=) c.1086C>T (p.Asp362=) c.1596C>T (p.Asp532=) c.1257C>T (p.Asp419=) c.1605C>T (p.Asp535=) c.1569C>T (p.Asp523=) c.297C>T (p.Asp99=) c.1686C>T (p.Asp562=) c.1659C>T (p.Asp553=) c.1563C>T (p.Asp521=) c.1170C>T (p.Asp390=) c.1632C>T (p.Asp544=) c.1566C>T (p.Asp522=) c.597C>T (p.Asp199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |