| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570754G>A | CA007717 | KCNQ1 | c.343G>A (p.Asp115Asn) c.478-12681G>A (n.478-12681G>A) c.604G>A (p.Asp202Asn) c.223G>A (p.Asp75Asn) c.124-12681G>A (n.124-12681G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570754G>C | CA007727 | KCNQ1 | c.343G>C (p.Asp115His) c.478-12681G>C (n.478-12681G>C) c.604G>C (p.Asp202His) c.223G>C (p.Asp75His) c.124-12681G>C (n.124-12681G>C) | ClinVar dbSNP |