| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572848G>C | CA008229 | KCNQ1 | c.522G>C (p.Glu174Asp) c.478-10587G>C (n.478-10587G>C) c.783G>C (p.Glu261Asp) c.402G>C (p.Glu134Asp) c.124-10587G>C (n.124-10587G>C) | ClinVar dbSNP |
| 11 | g.2572848G= | CA1948243165 | KCNQ1 | c.522G= (p.Glu174=) c.478-10587G= (n.478-10587G=) c.783G= (p.Glu261=) c.402G= (p.Glu134=) c.124-10587G= (n.124-10587G=) | dbSNP |