| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150948501C>G | CA007067 | KCNH2 | n.3468G>C c.2635G>C (p.Gly879Arg) c.1615G>C (p.Gly539Arg) c.2335G>C (p.Gly779Arg) c.2485G>C (p.Gly829Arg) c.2458G>C (p.Gly820Arg) | ClinVar dbSNP |
| 7 | g.150948501C>T | CA369853790 | KCNH2 | n.3468G>A c.2635G>A (p.Gly879Ser) c.1615G>A (p.Gly539Ser) c.2335G>A (p.Gly779Ser) c.2485G>A (p.Gly829Ser) c.2458G>A (p.Gly820Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |