| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150951793G>T | CA004896 | KCNH2 | n.898C>A n.493C>A n.2433C>A c.1600C>A (p.Arg534Ser) c.580C>A (p.Arg194Ser) c.1252C>A (p.Arg418Ser) n.887C>A n.905C>A n.1823C>A c.1300C>A (p.Arg434Ser) c.1450C>A (p.Arg484Ser) c.1423C>A (p.Arg475Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150951793G>A | CA004904 | KCNH2 | n.898C>T n.493C>T n.2433C>T c.1600C>T (p.Arg534Cys) c.580C>T (p.Arg194Cys) c.1252C>T (p.Arg418Cys) n.887C>T n.905C>T n.1823C>T c.1300C>T (p.Arg434Cys) c.1450C>T (p.Arg484Cys) c.1423C>T (p.Arg475Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.150951793G>C | CA369859151 | KCNH2 | n.898C>G n.493C>G n.2433C>G c.1600C>G (p.Arg534Gly) c.580C>G (p.Arg194Gly) c.1252C>G (p.Arg418Gly) n.887C>G n.905C>G n.1823C>G c.1300C>G (p.Arg434Gly) c.1450C>G (p.Arg484Gly) c.1423C>G (p.Arg475Gly) | ClinVar dbSNP |