| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570629A>T | CA007216 | KCNQ1 | c.218A>T (p.Glu73Val) c.478-12806A>T (n.478-12806A>T) c.479A>T (p.Glu160Val) c.98A>T (p.Glu33Val) c.124-12806A>T (n.124-12806A>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570629A= | CA1948239329 | KCNQ1 | c.218A= (p.Glu73=) c.478-12806A= (n.478-12806A=) c.479A= (p.Glu160=) c.98A= (p.Glu33=) c.124-12806A= (n.124-12806A=) | dbSNP |