| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150951738A>T | CA369858923 | KCNH2 | n.953T>A n.548T>A n.2488T>A c.1655T>A (p.Leu552Ter) c.635T>A (p.Leu212Ter) c.1307T>A (p.Leu436Ter) n.942T>A n.960T>A n.1878T>A c.1355T>A (p.Leu452Ter) c.1505T>A (p.Leu502Ter) c.1478T>A (p.Leu493Ter) | ClinVar dbSNP |
| 7 | g.150951738A>G | CA004960 | KCNH2 | n.953T>C n.548T>C n.2488T>C c.1655T>C (p.Leu552Ser) c.635T>C (p.Leu212Ser) c.1307T>C (p.Leu436Ser) n.942T>C n.960T>C n.1878T>C c.1355T>C (p.Leu452Ser) c.1505T>C (p.Leu502Ser) c.1478T>C (p.Leu493Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |