| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2768905A>G | CA005962 | KCNQ1 | c.1219A>G (p.Lys407Glu) c.1036A>G (p.Lys346Glu) c.1576A>G (p.Lys526Glu) c.1195A>G (p.Lys399Glu) c.682A>G (p.Lys228Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2768905A>C | CA030978 | KCNQ1 | c.1219A>C (p.Lys407Gln) c.1036A>C (p.Lys346Gln) c.1576A>C (p.Lys526Gln) c.1195A>C (p.Lys399Gln) c.682A>C (p.Lys228Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |