Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150945441C>T | CA008277 | KCNH2 | n.4237G>A c.3404G>A (p.Arg1135His) c.2384G>A (p.Arg795His) c.3104G>A (p.Arg1035His) c.3254G>A (p.Arg1085His) c.3227G>A (p.Arg1076His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945441C= | CA1752425687 | KCNH2 | n.4237G= c.3404G= (p.Arg1135=) c.2384G= (p.Arg795=) c.3104G= (p.Arg1035=) c.3254G= (p.Arg1085=) c.3227G= (p.Arg1076=) | dbSNP |