| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2583439C>T | CA008720 | KCNQ1 | c.665C>T (p.Thr222Ile) c.482C>T (p.Thr161Ile) c.926C>T (p.Thr309Ile) c.545C>T (p.Thr182Ile) c.128C>T (p.Thr43Ile) | ClinVar dbSNP |
| 11 | g.2583439C>G | CA008712 | KCNQ1 | c.665C>G (p.Thr222Arg) c.482C>G (p.Thr161Arg) c.926C>G (p.Thr309Arg) c.545C>G (p.Thr182Arg) c.128C>G (p.Thr43Arg) | ClinVar dbSNP |