| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2585225C>A | CA16613520 | KCNQ1 | c.771+1680C>A (n.771+1680C>A) c.588+1680C>A (n.588+1680C>A) c.1046C>A (p.Ser349Ter) c.665C>A (p.Ser222Ter) c.234+1680C>A (n.234+1680C>A) | ClinVar dbSNP |
| 11 | g.2585225C>G | CA005079 | KCNQ1 | c.771+1680C>G (n.771+1680C>G) c.588+1680C>G (n.588+1680C>G) c.1046C>G (p.Ser349Trp) c.665C>G (p.Ser222Trp) c.234+1680C>G (n.234+1680C>G) | ClinVar dbSNP |