Gene Mutations
 
Records Return:  (8) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
POLH6039682787506p21.1-p121 BP DEL, 207G0010XERODERMA PIGMENTOSUM, VARIANT TYPE1
POLH6039682787506p21.1-p12104 BP DEL, NT6610009XERODERMA PIGMENTOSUM, VARIANT TYPE1
POLH6039682787506p21.1-p121078insG XERODERMA PIGMENTOSUM, VARIANT TYPE1
POLH6039682787506p21.1-p1213 BP DEL, NT 3430001XERODERMA PIGMENTOSUM, VARIANT TYPE1
POLH6039682787506p21.1-p123 BP DEL, NT2220011XERODERMA PIGMENTOSUM, VARIANT TYPE1
POLH6039682787506p21.1-p12GLU22TER XERODERMA PIGMENTOSUM, VARIANT TYPE1
POLH6039682787506p21.1-p12VAL125TER0006XERODERMA PIGMENTOSUM, VARIANT TYPE2
POLH6039682787506p21.1-p12VAL372TER0007XERODERMA PIGMENTOSUM, VARIANT TYPE1