| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2583467G>C | CA008895 | KCNQ1 | c.693G>C (p.Lys231Asn) c.510G>C (p.Lys170Asn) c.954G>C (p.Lys318Asn) c.573G>C (p.Lys191Asn) c.156G>C (p.Lys52Asn) | ClinVar dbSNP |
| 11 | g.2583467G>A | CA472038413 | KCNQ1 | c.693G>A (p.Lys231=) c.510G>A (p.Lys170=) c.954G>A (p.Lys318=) c.573G>A (p.Lys191=) c.156G>A (p.Lys52=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |