| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150951720G>T | CA004976 | KCNH2 | n.971C>A n.2506C>A c.1673C>A (p.Ala558Glu) c.653C>A (p.Ala218Glu) c.1325C>A (p.Ala442Glu) n.960C>A n.978C>A n.1896C>A c.1373C>A (p.Ala458Glu) c.1523C>A (p.Ala508Glu) c.1496C>A (p.Ala499Glu) | ClinVar dbSNP |
| 7 | g.150951720G>A | CA369858836 | KCNH2 | n.971C>T n.2506C>T c.1673C>T (p.Ala558Val) c.653C>T (p.Ala218Val) c.1325C>T (p.Ala442Val) n.960C>T n.978C>T n.1896C>T c.1373C>T (p.Ala458Val) c.1523C>T (p.Ala508Val) c.1496C>T (p.Ala499Val) | dbSNP gnomAD v2 gnomAD v4 |