| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2768902G>A | CA005949 | KCNQ1 | c.1216G>A (p.Ala406Thr) c.1033G>A (p.Ala345Thr) c.1573G>A (p.Ala525Thr) c.1192G>A (p.Ala398Thr) c.679G>A (p.Ala227Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2768902G= | CA1948310072 | KCNQ1 | c.1216G= (p.Ala406=) c.1033G= (p.Ala345=) c.1573G= (p.Ala525=) c.1192G= (p.Ala398=) c.679G= (p.Ala227=) | dbSNP |