| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2775977C>A | CA005987 | KCNQ1 | c.1251C>A (p.Tyr417Ter) c.1068C>A (p.Tyr356Ter) c.1608C>A (p.Tyr536Ter) c.1227C>A (p.Tyr409Ter) c.714C>A (p.Tyr238Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2775977C>T | CA031500 | KCNQ1 | c.1251C>T (p.Tyr417=) c.1068C>T (p.Tyr356=) c.1608C>T (p.Tyr536=) c.1227C>T (p.Tyr409=) c.714C>T (p.Tyr238=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |