| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150958251G>T | CA369862707 | KCNH2 | n.1557C>A c.724C>A (p.Arg242Ser) c.376C>A (p.Arg126Ser) n.947C>A c.424C>A (p.Arg142Ser) c.574C>A (p.Arg192Ser) c.547C>A (p.Arg183Ser) | dbSNP gnomAD v4 |
| 7 | g.150958251G>A | CA369862704 | KCNH2 | n.1557C>T c.724C>T (p.Arg242Cys) c.376C>T (p.Arg126Cys) n.947C>T c.424C>T (p.Arg142Cys) c.574C>T (p.Arg192Cys) c.547C>T (p.Arg183Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958251G>C | CA008718 | KCNH2 | n.1557C>G c.724C>G (p.Arg242Gly) c.376C>G (p.Arg126Gly) n.947C>G c.424C>G (p.Arg142Gly) c.574C>G (p.Arg192Gly) c.547C>G (p.Arg183Gly) | ClinVar dbSNP gnomAD v4 |