| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2777990C>T | CA006297 | KCNQ1 | c.1390C>T (p.Arg464Cys) c.1207C>T (p.Arg403Cys) c.1747C>T (p.Arg583Cys) c.1366C>T (p.Arg456Cys) c.151C>T (p.Arg51Cys) c.853C>T (p.Arg285Cys) n.254C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2777990C>A | CA379139641 | KCNQ1 | c.1390C>A (p.Arg464Ser) c.1207C>A (p.Arg403Ser) c.1747C>A (p.Arg583Ser) c.1366C>A (p.Arg456Ser) c.151C>A (p.Arg51Ser) c.853C>A (p.Arg285Ser) n.254C>A | ClinVar dbSNP gnomAD v4 |