| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2768881C>T | CA005894 | KCNQ1 | c.1195C>T (p.Arg399Ter) c.1012C>T (p.Arg338Ter) c.1552C>T (p.Arg518Ter) c.1171C>T (p.Arg391Ter) c.658C>T (p.Arg220Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2768881C>G | CA005889 | KCNQ1 | c.1195C>G (p.Arg399Gly) c.1012C>G (p.Arg338Gly) c.1552C>G (p.Arg518Gly) c.1171C>G (p.Arg391Gly) c.658C>G (p.Arg220Gly) | ClinVar dbSNP |
| 11 | g.2768881C= | CA1948310021 | KCNQ1 | c.1195C= (p.Arg399=) c.1012C= (p.Arg338=) c.1552C= (p.Arg518=) c.1171C= (p.Arg391=) c.658C= (p.Arg220=) | dbSNP |