| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150958319T>A | CA008651 | KCNH2 | n.1489A>T c.656A>T (p.Asp219Val) c.308A>T (p.Asp103Val) n.879A>T c.356A>T (p.Asp119Val) c.506A>T (p.Asp169Val) c.479A>T (p.Asp160Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150958319T= | CA1752418404 | KCNH2 | n.1489A= c.656A= (p.Asp219=) c.308A= (p.Asp103=) n.879A= c.356A= (p.Asp119=) c.506A= (p.Asp169=) c.479A= (p.Asp160=) | dbSNP |