| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150947373C>T | CA007960 | KCNH2 | n.3940G>A c.3107G>A (p.Gly1036Asp) c.2087G>A (p.Gly696Asp) c.2807G>A (p.Gly936Asp) c.2957G>A (p.Gly986Asp) c.2930G>A (p.Gly977Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947373C>A | CA369852628 | KCNH2 | n.3940G>T c.3107G>T (p.Gly1036Val) c.2087G>T (p.Gly696Val) c.2807G>T (p.Gly936Val) c.2957G>T (p.Gly986Val) c.2930G>T (p.Gly977Val) | dbSNP gnomAD v3 gnomAD v4 |