Gene Mutations
 
Records Return:  (43) Show
 
123
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
NPC160762325722018q11-q121920delG NIEMANN-PICK DISEASE, TYPE C18
NPC160762325722018q11-q122215(or 2217)delTCCTTT(or CTTTTC) NIEMANN-PICK DISEASE, TYPE C11
NPC160762325722018q11-q122336insT NIEMANN-PICK DISEASE, TYPE C11
NPC160762325722018q11-q12424_425insGA NIEMANN-PICK DISEASE, TYPE C11
NPC160762325722018q11-q12451_452delAG NIEMANN-PICK DISEASE, TYPE C11
NPC160762325722018q11-q12813_815delCAT NIEMANN-PICK DISEASE, TYPE C11
NPC160762325722018q11-q12ARG1186HIS NIEMANN-PICK DISEASE, TYPE C11
NPC160762325722018q11-q12ARG404GLN NIEMANN-PICK DISEASE, TYPE C13
NPC160762325722018q11-q12ARG404TRP NIEMANN-PICK DISEASE, TYPE C11
NPC160762325722018q11-q12ARG978CYS0020NIEMANN-PICK DISEASE, TYPE C12
NPC160762325722018q11-q12ASN1156SER0003NIEMANN-PICK DISEASE, TYPE C11
NPC160762325722018q11-q12ASP242HIS NIEMANN-PICK DISEASE, TYPE C11
NPC160762325722018q11-q12ASP700ASN NIEMANN-PICK DISEASE, TYPE C11
NPC160762325722018q11-q12ASP874VAL NIEMANN-PICK DISEASE, TYPE C12
NPC160762325722018q11-q12ASP948ASN NIEMANN-PICK DISEASE, TYPE C11
NPC160762325722018q11-q12c.1628delC NIEMANN-PICK DISEASE, TYPE C11
NPC160762325722018q11-q12c.3662delT0021NIEMANN-PICK DISEASE, TYPE C11
NPC160762325722018q11-q12CYS42TYR NIEMANN-PICK DISEASE, TYPE C11
NPC160762325722018q11-q12CYS74TYR NIEMANN-PICK DISEASE, TYPE C11
NPC160762325722018q11-q12GLU612ASP NIEMANN-PICK DISEASE, TYPE C11