| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570656C>T | CA038071 | KCNQ1 | c.245C>T (p.Thr82Met) c.478-12779C>T (n.478-12779C>T) c.506C>T (p.Thr169Met) c.125C>T (p.Thr42Met) c.124-12779C>T (n.124-12779C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570656C>G | CA007290 | KCNQ1 | c.245C>G (p.Thr82Arg) c.478-12779C>G (n.478-12779C>G) c.506C>G (p.Thr169Arg) c.125C>G (p.Thr42Arg) c.124-12779C>G (n.124-12779C>G) | ClinVar dbSNP |
| 11 | g.2570656C= | CA1948239501 | KCNQ1 | c.245C= (p.Thr82=) c.478-12779C= (n.478-12779C=) c.506C= (p.Thr169=) c.125C= (p.Thr42=) c.124-12779C= (n.124-12779C=) | dbSNP |