Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.216519327C>A | CA423435564 | ESRRG | c.957G>T (p.Ser319=) c.909G>T (p.Ser303=) c.888G>T (p.Ser296=) c.993G>T (p.Ser331=) c.771G>T (p.Ser257=) c.204G>T (p.Ser68=) c.402G>T (p.Ser134=) c.1014G>T (p.Ser338=) c.978G>T (p.Ser326=) c.924G>T (p.Ser308=) c.972G>T (p.Ser324=) c.966G>T (p.Ser322=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216519327C>T | CA1396958 | ESRRG | c.957G>A (p.Ser319=) c.909G>A (p.Ser303=) c.888G>A (p.Ser296=) c.993G>A (p.Ser331=) c.771G>A (p.Ser257=) c.204G>A (p.Ser68=) c.402G>A (p.Ser134=) c.1014G>A (p.Ser338=) c.978G>A (p.Ser326=) c.924G>A (p.Ser308=) c.972G>A (p.Ser324=) c.966G>A (p.Ser322=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |