| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2527959A>G | CA007037 | KCNQ1 | n.215A>G c.157A>G (p.Ser53Gly) c.418A>G (p.Ser140Gly) c.37A>G (p.Ser13Gly) c.64A>G (p.Ser22Gly) n.287A>G c.208A>G (p.Ser70Gly) | ClinVar dbSNP |
| 11 | g.2527959A= | CA1948196756 | KCNQ1 | n.215A= c.157A= (p.Ser53=) c.418A= (p.Ser140=) c.37A= (p.Ser13=) c.64A= (p.Ser22=) n.287A= c.208A= (p.Ser70=) | dbSNP |