| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2588815C>T | CA005672 | KCNQ1 | c.997C>T (p.Arg333Trp) c.814C>T (p.Arg272Trp) c.1354C>T (p.Arg452Trp) c.973C>T (p.Arg325Trp) c.460C>T (p.Arg154Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2588815C= | CA1948236179 | KCNQ1 | c.997C= (p.Arg333=) c.814C= (p.Arg272=) c.1354C= (p.Arg452=) c.973C= (p.Arg325=) c.460C= (p.Arg154=) | dbSNP dbSNP |