Gene Mutations
 
Records Return:  (7) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
ERCC613354013354010q113614delT COCKAYNE SYNDROME, TYPE B2
ERCC613354013354010q113615delA COCKAYNE SYNDROME, TYPE B1
ERCC613354013354010q11ARG670TRP COCKAYNE SYNDROME, TYPE B1
ERCC613354013354010q11ARG735TER0002COCKAYNE SYNDROME, TYPE B; DE SANCTIS-CACCHIONE SYNDROME, INCLUDED2
ERCC613354013354010q11ARG857TER COCKAYNE SYNDROME, TYPE B1
ERCC613354013354010q11DEL EX10 COCKAYNE SYNDROME, TYPE B2
ERCC613354013354010q11LYS337TER COCKAYNE SYNDROME, TYPE B2