Gene Mutations
 
Records Return:  (8) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
PCCB2320506060543q21-q221172_1173delTT PROPIONIC ACIDEMIA1
PCCB2320506060543q21-q2212-BP INS, 14-BP DEL, NT12180003PROPIONIC ACIDEMIA3
PCCB2320506060543q21-q221204delG PROPIONIC ACIDEMIA1
PCCB2320506060543q21-q221209+2delT PROPIONIC ACIDEMIA1
PCCB2320506060543q21-q22ARG113TER PROPIONIC ACIDEMIA1
PCCB2320506060543q21-q22ASN536ASP PROPIONIC ACIDEMIA1
PCCB2320506060543q21-q22GLY112ASP PROPIONIC ACIDEMIA1
PCCB2320506060543q21-q22PHE391SER PROPIONIC ACIDEMIA1