| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.210804149T>C | CA215045 | KCNH1 | c.1480A>G (p.Ile494Val) c.1399A>G (p.Ile467Val) c.813A>G c.328A>G (p.Ile110Val) c.969A>G (p.Pro323=) c.1050A>G (p.Pro350=) c.311-28605A>G (n.311-28605A>G) c.304A>G (p.Ile102Val) | ClinVar dbSNP |
| 1 | g.210804149T= | CA1148224958 | KCNH1 | c.1480A= (p.Ile494=) c.1399A= (p.Ile467=) c.813A= c.328A= (p.Ile110=) c.969A= (p.Pro323=) c.1050A= (p.Pro350=) c.311-28605A= (n.311-28605A=) c.304A= (p.Ile102=) | dbSNP |