| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63413481T>C | CA10654781 | KCNQ2 | c.1678A>G (p.Met560Val) c.1732A>G (p.Met578Val) c.1129A>G (p.Met377Val) c.1639A>G (p.Met547Val) c.1300A>G (p.Met434Val) c.1648A>G (p.Met550Val) c.1612A>G (p.Met538Val) c.340A>G (p.Met114Val) c.1729A>G (p.Met577Val) c.1702A>G (p.Met568Val) c.1606A>G (p.Met536Val) c.1213A>G (p.Met405Val) c.1675A>G (p.Met559Val) c.1609A>G (p.Met537Val) c.640A>G (p.Met214Val) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63413481T>G | CA409643458 | KCNQ2 | c.1678A>C (p.Met560Leu) c.1732A>C (p.Met578Leu) c.1129A>C (p.Met377Leu) c.1639A>C (p.Met547Leu) c.1300A>C (p.Met434Leu) c.1648A>C (p.Met550Leu) c.1612A>C (p.Met538Leu) c.340A>C (p.Met114Leu) c.1729A>C (p.Met577Leu) c.1702A>C (p.Met568Leu) c.1606A>C (p.Met536Leu) c.1213A>C (p.Met405Leu) c.1675A>C (p.Met559Leu) c.1609A>C (p.Met537Leu) c.640A>C (p.Met214Leu) | ClinVar dbSNP |