| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2527948G>T | CA007007 | KCNQ1 | n.204G>T c.146G>T (p.Cys49Phe) c.407G>T (p.Cys136Phe) c.26G>T (p.Cys9Phe) c.53G>T (p.Cys18Phe) n.276G>T c.197G>T (p.Cys66Phe) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2527948G>A | CA379121276 | KCNQ1 | n.204G>A c.146G>A (p.Cys49Tyr) c.407G>A (p.Cys136Tyr) c.26G>A (p.Cys9Tyr) c.53G>A (p.Cys18Tyr) n.276G>A c.197G>A (p.Cys66Tyr) | dbSNP gnomAD v4 |
| 11 | g.2527948G= | CA1948196749 | KCNQ1 | n.204G= c.146G= (p.Cys49=) c.407G= (p.Cys136=) c.26G= (p.Cys9=) c.53G= (p.Cys18=) n.276G= c.197G= (p.Cys66=) | dbSNP |