| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63413527G>C | CA409643766 | KCNQ2 | c.1632C>G (p.Tyr544Ter) c.1686C>G (p.Tyr562Ter) c.1083C>G (p.Tyr361Ter) c.1593C>G (p.Tyr531Ter) c.1254C>G (p.Tyr418Ter) c.1602C>G (p.Tyr534Ter) c.1566C>G (p.Tyr522Ter) c.294C>G (p.Tyr98Ter) c.1683C>G (p.Tyr561Ter) c.1656C>G (p.Tyr552Ter) c.1560C>G (p.Tyr520Ter) c.1167C>G (p.Tyr389Ter) c.1629C>G (p.Tyr543Ter) c.1563C>G (p.Tyr521Ter) c.594C>G (p.Tyr198Ter) | ClinVar dbSNP |
| 20 | g.63413527G>A | CA511340076 | KCNQ2 | c.1632C>T (p.Tyr544=) c.1686C>T (p.Tyr562=) c.1083C>T (p.Tyr361=) c.1593C>T (p.Tyr531=) c.1254C>T (p.Tyr418=) c.1602C>T (p.Tyr534=) c.1566C>T (p.Tyr522=) c.294C>T (p.Tyr98=) c.1683C>T (p.Tyr561=) c.1656C>T (p.Tyr552=) c.1560C>T (p.Tyr520=) c.1167C>T (p.Tyr389=) c.1629C>T (p.Tyr543=) c.1563C>T (p.Tyr521=) c.594C>T (p.Tyr198=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63413527G>T | CA16608020 | KCNQ2 | c.1632C>A (p.Tyr544Ter) c.1686C>A (p.Tyr562Ter) c.1083C>A (p.Tyr361Ter) c.1593C>A (p.Tyr531Ter) c.1254C>A (p.Tyr418Ter) c.1602C>A (p.Tyr534Ter) c.1566C>A (p.Tyr522Ter) c.294C>A (p.Tyr98Ter) c.1683C>A (p.Tyr561Ter) c.1656C>A (p.Tyr552Ter) c.1560C>A (p.Tyr520Ter) c.1167C>A (p.Tyr389Ter) c.1629C>A (p.Tyr543Ter) c.1563C>A (p.Tyr521Ter) c.594C>A (p.Tyr198Ter) | ClinVar dbSNP |