| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150949032del | CA006738 | KCNH2 | n.3252del c.2419del (p.Glu807SerfsTer3) c.1399del (p.Glu467SerfsTer3) c.2119del (p.Glu707SerfsTer3) c.2269del (p.Glu757SerfsTer3) c.2242del (p.Glu748SerfsTer3) | ClinVar dbSNP |
| 7 | g.150949032dup | CA2685600757 | KCNH2 | n.3252dup c.2419dup (p.Glu807GlyfsTer23) c.1399dup (p.Glu467GlyfsTer23) c.2119dup (p.Glu707GlyfsTer23) c.2269dup (p.Glu757GlyfsTer23) c.2242dup (p.Glu748GlyfsTer23) | dbSNP gnomAD v4 |