| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150947639C>G | CA369853107 | KCNH2 | n.3765G>C c.2932G>C (p.Glu978Gln) c.1912G>C (p.Glu638Gln) c.2632G>C (p.Glu878Gln) c.*12G>C (n.*12G>C) c.2782G>C (p.Glu928Gln) c.2755G>C (p.Glu919Gln) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947639C>T | CA007646 | KCNH2 | n.3765G>A c.2932G>A (p.Glu978Lys) c.1912G>A (p.Glu638Lys) c.2632G>A (p.Glu878Lys) c.*12G>A (n.*12G>A) c.2782G>A (p.Glu928Lys) c.2755G>A (p.Glu919Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947639C>A | CA007657 | KCNH2 | n.3765G>T c.2932G>T (p.Glu978Ter) c.1912G>T (p.Glu638Ter) c.2632G>T (p.Glu878Ter) c.*12G>T (n.*12G>T) c.2782G>T (p.Glu928Ter) c.2755G>T (p.Glu919Ter) | ClinVar dbSNP |