C1147T/G625A |
naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine |
Homo sapiens |
C319G/G625A |
naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine and upper reaspiratory infections |
Homo sapiens |
C319T |
naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine |
Homo sapiens |
C319T/G1095T |
naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine |
Homo sapiens |
C488A/C988T |
naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine and reactive airway disease |
Homo sapiens |
C527A/T1164/G1165del/G625A |
naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine |
Homo sapiens |
C867A |
naturally occuring homozygote mutation, genotype, mutant shows increased isobutyrylcarnitine levels in the urine |
Homo sapiens |
G1095T/G625A |
naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine |
Homo sapiens |
G1153T/G625A |
naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine |
Homo sapiens |
G268A/1C147T/G625A |
naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine |
Homo sapiens |
G268A/C1147T/G625A |
naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine |
Homo sapiens |
G320A/G417C |
naturally occuring mutation, genotype, mutant shows highly increased acylglycines and organic acid levels in the urine and eczema |
Homo sapiens |
G625A |
naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine |
Homo sapiens |
G682/A683del/C988T |
naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine |
Homo sapiens |
T455C/T443T |
naturally occuring mutation, genotype, mutant shows increased isobutyrylcarnitine levels in the urine, and pyelonephritisand emesis |
Homo sapiens |
T529C |
naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine |
Homo sapiens |
T529C/G625A |
naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine and atrial septal defect |
Homo sapiens |