| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63413471C>A | CA315492 | KCNQ2 | c.1688G>T (p.Arg563Leu) c.1742G>T (p.Arg581Leu) c.1139G>T (p.Arg380Leu) c.1649G>T (p.Arg550Leu) c.1310G>T (p.Arg437Leu) c.1658G>T (p.Arg553Leu) c.1622G>T (p.Arg541Leu) c.350G>T (p.Arg117Leu) c.1739G>T (p.Arg580Leu) c.1712G>T (p.Arg571Leu) c.1616G>T (p.Arg539Leu) c.1223G>T (p.Arg408Leu) c.1685G>T (p.Arg562Leu) c.1619G>T (p.Arg540Leu) c.650G>T (p.Arg217Leu) | ClinVar dbSNP |
| 20 | g.63413471C>T | CA315489 | KCNQ2 | c.1688G>A (p.Arg563Gln) c.1742G>A (p.Arg581Gln) c.1139G>A (p.Arg380Gln) c.1649G>A (p.Arg550Gln) c.1310G>A (p.Arg437Gln) c.1658G>A (p.Arg553Gln) c.1622G>A (p.Arg541Gln) c.350G>A (p.Arg117Gln) c.1739G>A (p.Arg580Gln) c.1712G>A (p.Arg571Gln) c.1616G>A (p.Arg539Gln) c.1223G>A (p.Arg408Gln) c.1685G>A (p.Arg562Gln) c.1619G>A (p.Arg540Gln) c.650G>A (p.Arg217Gln) | ClinVar dbSNP |
| 20 | g.63413471C>G | CA409643394 | KCNQ2 | c.1688G>C (p.Arg563Pro) c.1742G>C (p.Arg581Pro) c.1139G>C (p.Arg380Pro) c.1649G>C (p.Arg550Pro) c.1310G>C (p.Arg437Pro) c.1658G>C (p.Arg553Pro) c.1622G>C (p.Arg541Pro) c.350G>C (p.Arg117Pro) c.1739G>C (p.Arg580Pro) c.1712G>C (p.Arg571Pro) c.1616G>C (p.Arg539Pro) c.1223G>C (p.Arg408Pro) c.1685G>C (p.Arg562Pro) c.1619G>C (p.Arg540Pro) c.650G>C (p.Arg217Pro) | ClinVar dbSNP |