Gene Mutations
 
Records Return:  (6) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
COL6A112022025409021q22.31182+3G>A ULLRICH CONGENITAL MUSCULAR DYSTROPHY1
COL6A112022025409021q22.31814-6C>G ULLRICH CONGENITAL MUSCULAR DYSTROPHY1
COL6A112022025409021q22.31823-8G>A ULLRICH CONGENITAL MUSCULAR DYSTROPHY1
COL6A112022025409021q22.3850G>A ULLRICH CONGENITAL MUSCULAR DYSTROPHY1
COL6A112022025409021q22.3877G>A ULLRICH CONGENITAL MUSCULAR DYSTROPHY1
COL6A112022015881021q22.3c.868G>T BETHLEM MYOPATHY 1; BTHLM11