| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150948939C>A | CA006879 | KCNH2 | n.3342G>T c.2509G>T (p.Asp837Tyr) c.1489G>T (p.Asp497Tyr) c.2209G>T (p.Asp737Tyr) c.2359G>T (p.Asp787Tyr) c.2332G>T (p.Asp778Tyr) | ClinVar dbSNP |
| 7 | g.150948939C>T | CA006870 | KCNH2 | n.3342G>A c.2509G>A (p.Asp837Asn) c.1489G>A (p.Asp497Asn) c.2209G>A (p.Asp737Asn) c.2359G>A (p.Asp787Asn) c.2332G>A (p.Asp778Asn) | ClinVar dbSNP |
| 7 | g.150948939C>G | CA369855009 | KCNH2 | n.3342G>C c.2509G>C (p.Asp837His) c.1489G>C (p.Asp497His) c.2209G>C (p.Asp737His) c.2359G>C (p.Asp787His) c.2332G>C (p.Asp778His) | dbSNP |
| 7 | g.150948939C= | CA1752431942 | KCNH2 | n.3342G= c.2509G= (p.Asp837=) c.1489G= (p.Asp497=) c.2209G= (p.Asp737=) c.2359G= (p.Asp787=) c.2332G= (p.Asp778=) | dbSNP |