Gene Mutations
 
Records Return:  (7) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
ERCC513353013353013q331-BP DEL, FS660TER0004XERODERMA PIGMENTOSUM, GROUP G COMBINED WITH COCKAYNE SYNDROME2
ERCC513353013353013q331116delTC XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME1
ERCC513353013353013q332801delTG XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME1
ERCC513353013353013q33ALA874THR XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME1
ERCC513353013353013q33ARG263TER0005XERODERMA PIGMENTOSUM, GROUP G COMBINED WITH COCKAYNE SYNDROME1
ERCC513353013353013q33GLN136TER XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME1
ERCC513353013353013q33GLN16TER XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME1