| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2587616G>A | CA16613564 | KCNQ1 | c.818G>A (p.Trp273Ter) c.635G>A (p.Trp212Ter) c.1175G>A (p.Trp392Ter) c.794G>A (p.Trp265Ter) c.281G>A (p.Trp94Ter) | ClinVar dbSNP |
| 11 | g.2587616G= | CA1948233241 | KCNQ1 | c.818G= (p.Trp273=) c.635G= (p.Trp212=) c.1175G= (p.Trp392=) c.794G= (p.Trp265=) c.281G= (p.Trp94=) | dbSNP |