| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150947729G>A | CA007496 | KCNH2 | n.3675C>T c.2842C>T (p.Arg948Cys) c.1822C>T (p.Arg608Cys) c.2542C>T (p.Arg848Cys) c.2693-38C>T (n.2693-38C>T) c.2692C>T (p.Arg898Cys) c.2665C>T (p.Arg889Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947729G>T | CA007486 | KCNH2 | n.3675C>A c.2842C>A (p.Arg948Ser) c.1822C>A (p.Arg608Ser) c.2542C>A (p.Arg848Ser) c.2693-38C>A (n.2693-38C>A) c.2692C>A (p.Arg898Ser) c.2665C>A (p.Arg889Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |