| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572915G>A | CA008486 | KCNQ1 | c.589G>A (p.Glu197Lys) c.478-10520G>A (n.478-10520G>A) c.850G>A (p.Glu284Lys) c.469G>A (p.Glu157Lys) c.124-10520G>A (n.124-10520G>A) | ClinVar dbSNP |
| 11 | g.2572915G= | CA1948243214 | KCNQ1 | c.589G= (p.Glu197=) c.478-10520G= (n.478-10520G=) c.850G= (p.Glu284=) c.469G= (p.Glu157=) c.124-10520G= (n.124-10520G=) | dbSNP |