Gene Mutations
 
Records Return:  (3) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
COL1A21201601662107q21.3EX28DEL0018OSTEOGENESIS IMPERFECTA, TYPE II1
COL1A21201601662207q21.3GLY610CYS OSTEOGENESIS IMPERFECTA, TYPE IV50
COL1A21201601662107q21.3GLY907ASP0008OSTEOGENESIS IMPERFECTA, TYPE II1