Gene Mutations
 
Records Return:  (4) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
ALPL1717602415101p36.1-p34ARG54CYS0002HYPOPHOSPHATASIA, INFANTILE1
ALPL1717602415101p36.1-p34ARG54PRO0004HYPOPHOSPHATASIA, INFANTILE1
ALPL1717602415101p36.1-p34ASP277ALA0003HYPOPHOSPHATASIA, INFANTILE1
ALPL1717602415101p36.1-p34GLN190PRO0005HYPOPHOSPHATASIA, INFANTILE1