Gene Mutations
 
Records Return:  (2) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
COL5A11202151300009q34.2-q34.32160insC EHLERS-DANLOS SYNDROME, TYPE I1
COL5A11202151300109q34.2-q34.3SER530GLY EHERLS-DANLOS SYNDROME, TYPE II2