| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572981G>A | CA008634 | KCNQ1 | c.655G>A (p.Gly219Arg) c.478-10454G>A (n.478-10454G>A) c.916G>A (p.Gly306Arg) c.535G>A (p.Gly179Arg) c.124-10454G>A (n.124-10454G>A) | ClinVar dbSNP |
| 11 | g.2572981G>C | CA008640 | KCNQ1 | c.655G>C (p.Gly219Arg) c.478-10454G>C (n.478-10454G>C) c.916G>C (p.Gly306Arg) c.535G>C (p.Gly179Arg) c.124-10454G>C (n.124-10454G>C) | ClinVar dbSNP |
| 11 | g.2572981G= | CA1948212421 | KCNQ1 | c.655G= (p.Gly219=) c.478-10454G= (n.478-10454G=) c.916G= (p.Gly306=) c.535G= (p.Gly179=) c.124-10454G= (n.124-10454G=) | dbSNP |