| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2585227G>A | CA005089 | KCNQ1 | c.771+1682G>A (n.771+1682G>A) c.588+1682G>A (n.588+1682G>A) c.1048G>A (p.Gly350Arg) c.667G>A (p.Gly223Arg) c.234+1682G>A (n.234+1682G>A) | ClinVar dbSNP |
| 11 | g.2585227G>C | CA005094 | KCNQ1 | c.771+1682G>C (n.771+1682G>C) c.588+1682G>C (n.588+1682G>C) c.1048G>C (p.Gly350Arg) c.667G>C (p.Gly223Arg) c.234+1682G>C (n.234+1682G>C) | ClinVar dbSNP |