Gene Mutations
 
Records Return:  (5) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
ERCC31335101335102q211421_1422insA XERODERMA PIGMENTOSUM, TYPE B1
ERCC31335101335102q21ARG425TER XERODERMA PIGMENTOSUM, TYPE B2
ERCC31335101335102q21GLN545TER XERODERMA PIGMENTOSUM, TYPE B1
ERCC31335101335102q21PHE99SER0002XERODERMA PIGMENTOSUM, TYPE B6
ERCC31335101335102q21SPLICE ACCEPTOR C>A, FS0001XERODERMA PIGMENTOSUM, TYPE B6