| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150952652C>T | CA004478 | KCNH2 | n.628G>A n.223G>A n.2163G>A c.1330G>A (p.Glu444Lys) c.310G>A (p.Glu104Lys) c.982G>A (p.Glu328Lys) n.617G>A n.635G>A n.1553G>A c.1030G>A (p.Glu344Lys) c.1180G>A (p.Glu394Lys) c.1153G>A (p.Glu385Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150952652C>A | CA004486 | KCNH2 | n.628G>T n.223G>T n.2163G>T c.1330G>T (p.Glu444Ter) c.310G>T (p.Glu104Ter) c.982G>T (p.Glu328Ter) n.617G>T n.635G>T n.1553G>T c.1030G>T (p.Glu344Ter) c.1180G>T (p.Glu394Ter) c.1153G>T (p.Glu385Ter) | ClinVar dbSNP |