Gene Mutations
 
Records Return:  (7) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
COL6A212024025409021q22.31770+1delG ULLRICH CONGENITAL MUSCULAR DYSTROPHY1
COL6A212024012024021q22.3955-2A>G ULLRICH CONGENITAL MUSCULAR DYSTROPHY1
COL6A212024025409021q22.3GLY301SER ULLRICH CONGENITAL MUSCULAR DYSTROPHY1
COL6A212024025409021q22.3IVS11+1G>T ULLRICH CONGENITAL MUSCULAR DYSTROPHY1
COL6A212024025409021q22.3IVS6-3C>G ULLRICH CONGENITAL MUSCULAR DYSTROPHY2
COL6A212024025409021q22.3LYS796TER ULLRICH CONGENITAL MUSCULAR DYSTROPHY2
COL6A212024025409021q22.3PRO518SER ULLRICH CONGENITAL MUSCULAR DYSTROPHY1