Gene Mutations
 
Records Return:  (10) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
LAMA21562256078556q22-q232049_2050delAG MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A3
LAMA21562256078556q22-q232370T>A MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A1
LAMA21562256078556q22-q232T>C MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT1
LAMA21562256078556q22-q2335T>G MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT2
LAMA21562256078556q22-q2347delG MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A1
LAMA21562256078556q22-q236429+1G>T MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A1
LAMA21562256078556q22-q237297C>T MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A2
LAMA21562256078556q22-q238669dupT MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A1
LAMA21562256078556q22-q23ARG2578TER0008MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A3
LAMA21562256078556q22-q23CYS967TER0013MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A1