| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2768882G>C | CA005909 | KCNQ1 | c.1196G>C (p.Arg399Pro) c.1013G>C (p.Arg338Pro) c.1553G>C (p.Arg518Pro) c.1172G>C (p.Arg391Pro) c.659G>C (p.Arg220Pro) | ClinVar dbSNP |
| 11 | g.2768882G>A | CA005903 | KCNQ1 | c.1196G>A (p.Arg399Gln) c.1013G>A (p.Arg338Gln) c.1553G>A (p.Arg518Gln) c.1172G>A (p.Arg391Gln) c.659G>A (p.Arg220Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2768882G= | CA1948310030 | KCNQ1 | c.1196G= (p.Arg399=) c.1013G= (p.Arg338=) c.1553G= (p.Arg518=) c.1172G= (p.Arg391=) c.659G= (p.Arg220=) | dbSNP |