| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2445430A>G | CA006810 | KCNQ1 | c.71A>G (p.Tyr24Cys) c.332A>G (p.Tyr111Cys) n.109A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2445430A= | CA1948161017 | KCNQ1 | c.71A= (p.Tyr24=) c.332A= (p.Tyr111=) n.109A= | dbSNP |
| 11 | g.2445430A>C | CA379117524 | KCNQ1 | c.71A>C (p.Tyr24Ser) c.332A>C (p.Tyr111Ser) n.109A>C | ClinVar dbSNP |