| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63413526C>T | CA315477 | KCNQ2 | c.1633G>A (p.Asp545Asn) c.1687G>A (p.Asp563Asn) c.1084G>A (p.Asp362Asn) c.1594G>A (p.Asp532Asn) c.1255G>A (p.Asp419Asn) c.1603G>A (p.Asp535Asn) c.1567G>A (p.Asp523Asn) c.295G>A (p.Asp99Asn) c.1684G>A (p.Asp562Asn) c.1657G>A (p.Asp553Asn) c.1561G>A (p.Asp521Asn) c.1168G>A (p.Asp390Asn) c.1630G>A (p.Asp544Asn) c.1564G>A (p.Asp522Asn) c.595G>A (p.Asp199Asn) | ClinVar dbSNP COSMIC |
| 20 | g.63413526C>A | CA409643764 | KCNQ2 | c.1633G>T (p.Asp545Tyr) c.1687G>T (p.Asp563Tyr) c.1084G>T (p.Asp362Tyr) c.1594G>T (p.Asp532Tyr) c.1255G>T (p.Asp419Tyr) c.1603G>T (p.Asp535Tyr) c.1567G>T (p.Asp523Tyr) c.295G>T (p.Asp99Tyr) c.1684G>T (p.Asp562Tyr) c.1657G>T (p.Asp553Tyr) c.1561G>T (p.Asp521Tyr) c.1168G>T (p.Asp390Tyr) c.1630G>T (p.Asp544Tyr) c.1564G>T (p.Asp522Tyr) c.595G>T (p.Asp199Tyr) | ClinVar dbSNP |