| 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 |
| 11 | g.2777990C>G | CA379139643 | KCNQ1 | c.1390C>G (p.Arg464Gly) c.1207C>G (p.Arg403Gly) c.1747C>G (p.Arg583Gly) c.1366C>G (p.Arg456Gly) c.151C>G (p.Arg51Gly) c.853C>G (p.Arg285Gly) n.254C>G | ClinVar dbSNP |
| 11 | g.2777990C= | CA1948315093 | KCNQ1 | c.1390C= (p.Arg464=) c.1207C= (p.Arg403=) c.1747C= (p.Arg583=) c.1366C= (p.Arg456=) c.151C= (p.Arg51=) c.853C= (p.Arg285=) n.254C= | dbSNP |