| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150948980C>G | CA369855171 | KCNH2 | n.3301G>C c.2468G>C (p.Arg823Pro) c.1448G>C (p.Arg483Pro) c.2168G>C (p.Arg723Pro) c.2318G>C (p.Arg773Pro) c.2291G>C (p.Arg764Pro) | ClinVar dbSNP |
| 7 | g.150948980C>T | CA16618403 | KCNH2 | n.3301G>A c.2468G>A (p.Arg823Gln) c.1448G>A (p.Arg483Gln) c.2168G>A (p.Arg723Gln) c.2318G>A (p.Arg773Gln) c.2291G>A (p.Arg764Gln) | ClinVar dbSNP gnomAD v4 |