Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150958221G>A | CA169081266 | KCNH2 | n.1587C>T c.754C>T (p.Arg252Trp) c.406C>T (p.Arg136Trp) n.977C>T c.454C>T (p.Arg152Trp) c.604C>T (p.Arg202Trp) c.577C>T (p.Arg193Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150958221G>C | CA008755 | KCNH2 | n.1587C>G c.754C>G (p.Arg252Gly) c.406C>G (p.Arg136Gly) n.977C>G c.454C>G (p.Arg152Gly) c.604C>G (p.Arg202Gly) c.577C>G (p.Arg193Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150958221G>T | CA169081268 | KCNH2 | n.1587C>A c.754C>A (p.Arg252=) c.406C>A (p.Arg136=) n.977C>A c.454C>A (p.Arg152=) c.604C>A (p.Arg202=) c.577C>A (p.Arg193=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |