rs118204090
|
1.000 |
0.160 |
17 |
75953563 |
missense variant |
T/C
|
snv
|
|
|
Peroxisomal ACYL-COA oxidase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.800 |
|
0 |
|
|
rs118204091
|
1.000 |
0.160 |
17 |
75957465 |
missense variant |
C/A;T
|
snv
|
|
|
Peroxisomal ACYL-COA oxidase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.800 |
|
0 |
|
|
rs118204092
|
1.000 |
0.160 |
17 |
75953469 |
missense variant |
T/C
|
snv
|
|
|
Peroxisomal ACYL-COA oxidase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.800 |
|
0 |
|
|
rs118204093
|
1.000 |
0.160 |
17 |
75957555 |
stop gained |
G/A
|
snv
|
|
|
Peroxisomal ACYL-COA oxidase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1567892272
|
1.000 |
0.160 |
17 |
75978664 |
frameshift variant |
G/-
|
delins
|
|
|
Peroxisomal ACYL-COA oxidase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs387906248
|
1.000 |
0.160 |
17 |
75960256 |
inframe deletion |
TTCCAGGCGGGCATGAAG/-
|
delins
|
|
|
Peroxisomal ACYL-COA oxidase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs758962364
|
1.000 |
0.160 |
17 |
75953467 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Peroxisomal ACYL-COA oxidase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs777937235
|
1.000 |
0.160 |
17 |
75978627 |
missense variant |
C/G
|
snv
|
8.0E-06
|
|
Peroxisomal ACYL-COA oxidase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs780887410
|
1.000 |
0.160 |
17 |
75955935 |
missense variant |
G/A
|
snv
|
8.0E-06
|
7.0E-06
|
Peroxisomal ACYL-COA oxidase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs797045080
|
1.000 |
0.160 |
17 |
75948335 |
frameshift variant |
A/-
|
delins
|
4.0E-06
|
|
Peroxisomal ACYL-COA oxidase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|