| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2776006C>A | CA379139155 | KCNQ1 | c.1280C>A (p.Ser427Ter) c.1097C>A (p.Ser366Ter) c.1637C>A (p.Ser546Ter) c.1256C>A (p.Ser419Ter) c.743C>A (p.Ser248Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2776006C>T | CA006028 | KCNQ1 | c.1280C>T (p.Ser427Leu) c.1097C>T (p.Ser366Leu) c.1637C>T (p.Ser546Leu) c.1256C>T (p.Ser419Leu) c.743C>T (p.Ser248Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2776006C= | CA1948314044 | KCNQ1 | c.1280C= (p.Ser427=) c.1097C= (p.Ser366=) c.1637C= (p.Ser546=) c.1256C= (p.Ser419=) c.743C= (p.Ser248=) | dbSNP |