| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150948452G>A | CA007147 | KCNH2 | n.3517C>T c.2684C>T (p.Thr895Met) c.1664C>T (p.Thr555Met) c.2384C>T (p.Thr795Met) c.2534C>T (p.Thr845Met) c.2507C>T (p.Thr836Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150948452G>C | CA034086 | KCNH2 | n.3517C>G c.2684C>G (p.Thr895Arg) c.1664C>G (p.Thr555Arg) c.2384C>G (p.Thr795Arg) c.2534C>G (p.Thr845Arg) c.2507C>G (p.Thr836Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150948452G>T | CA369853629 | KCNH2 | n.3517C>A c.2684C>A (p.Thr895Lys) c.1664C>A (p.Thr555Lys) c.2384C>A (p.Thr795Lys) c.2534C>A (p.Thr845Lys) c.2507C>A (p.Thr836Lys) | ClinVar dbSNP gnomAD v4 |