Gene Mutations
 
Records Return:  (2) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
CPN160310321207010q24.21-BP INS, 385G0001CARBOXYPEPTIDASE N DEFICIENCY1
CPN160310321207010q24.2GLY178ASP0002CARBOXYPEPTIDASE N DEFICIENCY1