| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2583477A>C | CA379133010 | KCNQ1 | c.703A>C (p.Thr235Pro) c.520A>C (p.Thr174Pro) c.964A>C (p.Thr322Pro) c.583A>C (p.Thr195Pro) c.166A>C (p.Thr56Pro) | ClinVar dbSNP |
| 11 | g.2583477A>G | CA008936 | KCNQ1 | c.703A>G (p.Thr235Ala) c.520A>G (p.Thr174Ala) c.964A>G (p.Thr322Ala) c.583A>G (p.Thr195Ala) c.166A>G (p.Thr56Ala) | ClinVar dbSNP |
| 11 | g.2583477A= | CA1948224876 | KCNQ1 | c.703A= (p.Thr235=) c.520A= (p.Thr174=) c.964A= (p.Thr322=) c.583A= (p.Thr195=) c.166A= (p.Thr56=) | dbSNP |