Gene Mutations
 
Records Return:  (4) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
CAPN311424025360015q15.1-q21.1598_612del LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A1
CAPN311424025360015q15.1-q21.1ARG490GLN0010LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A1
CAPN311424025360015q15.1-q21.1ILE113THR LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A1
CAPN311424025360015q15.1-q21.1THR184ARGfs*36 LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A1