| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570670C>T | CA007321 | KCNQ1 | c.259C>T (p.Arg87Cys) c.478-12765C>T (n.478-12765C>T) c.520C>T (p.Arg174Cys) c.139C>T (p.Arg47Cys) c.124-12765C>T (n.124-12765C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570670C= | CA1948239617 | KCNQ1 | c.259C= (p.Arg87=) c.478-12765C= (n.478-12765C=) c.520C= (p.Arg174=) c.139C= (p.Arg47=) c.124-12765C= (n.124-12765C=) | dbSNP |