| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572982G>A | CA379131783 | KCNQ1 | c.656G>A (p.Gly219Glu) c.478-10453G>A (n.478-10453G>A) c.917G>A (p.Gly306Glu) c.536G>A (p.Gly179Glu) c.124-10453G>A (n.124-10453G>A) | ClinVar dbSNP |
| 11 | g.2572982G>T | CA008647 | KCNQ1 | c.656G>T (p.Gly219Val) c.478-10453G>T (n.478-10453G>T) c.917G>T (p.Gly306Val) c.536G>T (p.Gly179Val) c.124-10453G>T (n.124-10453G>T) | ClinVar dbSNP |