Gene Mutations
 
Records Return:  (28) Show
 
12
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
DMD300377310200Xp21.25'END-EX19DEL DUCHENNE MUSCULAR DYSTROPHY1
DMD300377310200Xp21.27893delC DUCHENNE MUSCULAR DYSTROPHY1
DMD300377310200Xp21.2ARG2905TER0082DUCHENNE MUSCULAR DYSTROPHY1
DMD300377310200Xp21.2EX1-18DEL (DEL 5 PRIME END-18) DUCHENNE MUSCULAR DYSTROPHY2
DMD300377310200Xp21.2EX17DUP MUSCULAR DYSTROPHY, DUCHENNE TYPE1
DMD300377310200Xp21.2EX18-41DEL DUCHENNE MUSCULAR DYSTROPHY1
DMD300377310200Xp21.2EX2-30DUP DUCHENNE MUSCULAR DYSTROPHY2
DMD300377310200Xp21.2EX2-4DUP DUCHENNE MUSCULAR DYSTROPHY1
DMD300377310200Xp21.2EX27-28DUP BECKER MUSCULAR DYSTROPHY1
DMD300377310200Xp21.2EX3-17DEL DUCHENNE MUSCULAR DYSTROPHY4
DMD300377310200Xp21.2EX3-5DEL DUCHENNE MUSCULAR DYSTROPHY2
DMD300377310200Xp21.2EX31-43DEL DUCHENNE MUSCULAR DYSTROPHY1
DMD300377310200Xp21.2EX35-43DEL DUCHENNE MUSCULAR DYSTROPHY3
DMD300377310200Xp21.2EX4-43DEL DUCHENNE MUSCULAR DYSTROPHY2
DMD300377310200Xp21.2EX44DEL DUCHENNE MUSCULAR DYSTROPHY2
DMD300377310200Xp21.2EX45-50DEL DUCHENNE MUSCULAR DYSTROPHY3
DMD300377310200Xp21.2EX45-53DEL DUCHENNE MUSCULAR DYSTROPHY2
DMD300377310200Xp21.2EX45-62DEL DUCHENNE MUSCULAR DYSTROPHY1
DMD300377310200Xp21.2EX45-62DUP DUCHENNE MUSCULAR DYSTROPHY2
DMD300377310200Xp21.2EX45DEL DUCHENNE MUSCULAR DYSTROPHY6