Gene Mutations
 
Records Return:  (4) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
ERCC413352027876016p13.3-p13.131937delT XERODERMA PIGMENTOSUM, TYPE F1
ERCC413352027876016p13.3-p13.13ARG479GLN XERODERMA PIGMENTOSUM, TYPE F1
ERCC413352027876016p13.3-p13.13LEU599PRO XERODERMA PIGMENTOSUM, TYPE F1
ERCC413352027876016p13.3-p13.13THR556ALA XERODERMA PIGMENTOSUM, TYPE F1