| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2587613C>T | CA005438 | KCNQ1 | c.815C>T (p.Thr272Ile) c.632C>T (p.Thr211Ile) c.1172C>T (p.Thr391Ile) c.791C>T (p.Thr264Ile) c.278C>T (p.Thr93Ile) | ClinVar dbSNP |
| 11 | g.2587613C= | CA1948233208 | KCNQ1 | c.815C= (p.Thr272=) c.632C= (p.Thr211=) c.1172C= (p.Thr391=) c.791C= (p.Thr264=) c.278C= (p.Thr93=) | dbSNP |