Gene Mutations
 
Records Return:  (13) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
RECQL360461021090015q26.11544insA BLOOM SYNDROME2
RECQL360461021090015q26.12923delC BLOOM SYNDROME2
RECQL360461021090015q26.13233delT BLOOM SYNDROME2
RECQL360461021090015q26.13261delT BLOOM SYNDROME1
RECQL360461021090015q26.16-BP DEL/7-BP INS0001BLOOM SYNDROME13
RECQL360461021090015q26.1ARG899TER BLOOM SYNDROME1
RECQL360461021090015q26.1DEL EX15 BLOOM SYNDROME1
RECQL360461021090015q26.1GLN645TER BLOOM SYNDROME2
RECQL360461021090015q26.1GLN672ARG BLOOM SYNDROME1
RECQL360461021090015q26.1GLN700TER BLOOM SYNDROME1
RECQL360461021090015q26.1GLN752TER BLOOM SYNDROME1
RECQL360461021090015q26.1IVS5-2A>G BLOOM SYNDROME1
RECQL360461021090015q26.1SER595TER BLOOM SYNDROME1