Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.44413795C>T | CA120194 | HNF4A | c.421C>T (p.Arg141Ter) c.487C>T (p.Arg163Ter) c.461C>T n.463C>T n.1611C>T c.*254C>T (n.*254C>T) c.412C>T (p.Arg138Ter) c.466C>T (p.Arg156Ter) c.604C>T (p.Arg202Ter) c.535C>T (p.Arg179Ter) | ClinVar dbSNP |
20 | g.44413795C= | CA2365761585 | HNF4A | c.421C= (p.Arg141=) c.487C= (p.Arg163=) c.461C= n.463C= n.1611C= c.*254C= (n.*254C=) c.412C= (p.Arg138=) c.466C= (p.Arg156=) c.604C= (p.Arg202=) c.535C= (p.Arg179=) | dbSNP |