Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150951704C>G | CA005080 | KCNH2 | n.987G>C n.2522G>C c.1689G>C (p.Trp563Cys) c.669G>C (p.Trp223Cys) c.1341G>C (p.Trp447Cys) n.976G>C n.994G>C n.1912G>C c.1389G>C (p.Trp463Cys) c.1539G>C (p.Trp513Cys) c.1512G>C (p.Trp504Cys) | ClinVar dbSNP |
7 | g.150951704C>T | CA369858778 | KCNH2 | n.987G>A n.2522G>A c.1689G>A (p.Trp563Ter) c.669G>A (p.Trp223Ter) c.1341G>A (p.Trp447Ter) n.976G>A n.994G>A n.1912G>A c.1389G>A (p.Trp463Ter) c.1539G>A (p.Trp513Ter) c.1512G>A (p.Trp504Ter) | ClinVar dbSNP |
7 | g.150951704C>A | CA005087 | KCNH2 | n.987G>T n.2522G>T c.1689G>T (p.Trp563Cys) c.669G>T (p.Trp223Cys) c.1341G>T (p.Trp447Cys) n.976G>T n.994G>T n.1912G>T c.1389G>T (p.Trp463Cys) c.1539G>T (p.Trp513Cys) c.1512G>T (p.Trp504Cys) | ClinVar dbSNP |