| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572859C>A | CA379131296 | KCNQ1 | c.533C>A (p.Thr178Asn) c.478-10576C>A (n.478-10576C>A) c.794C>A (p.Thr265Asn) c.413C>A (p.Thr138Asn) c.124-10576C>A (n.124-10576C>A) | ClinVar dbSNP |
| 11 | g.2572859C>T | CA008246 | KCNQ1 | c.533C>T (p.Thr178Ile) c.478-10576C>T (n.478-10576C>T) c.794C>T (p.Thr265Ile) c.413C>T (p.Thr138Ile) c.124-10576C>T (n.124-10576C>T) | ClinVar dbSNP |