rs121913131
|
1.000 |
0.200 |
2 |
26279292 |
missense variant |
A/G
|
snv
|
|
|
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
3 |
1996 |
2003 |
rs121913132
|
1.000 |
0.200 |
2 |
26263452 |
missense variant |
G/A
|
snv
|
6.4E-05
|
4.9E-05
|
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
3 |
1996 |
2003 |
rs121913133
|
1.000 |
0.200 |
2 |
26279244 |
missense variant |
G/A;T
|
snv
|
1.2E-05
|
|
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
3 |
1996 |
2003 |
rs121913134
|
1.000 |
0.200 |
2 |
26285513 |
missense variant |
G/A
|
snv
|
|
|
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
3 |
1996 |
2003 |
rs891954464
|
1.000 |
0.200 |
2 |
26280083 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
7.0E-06
|
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
|
0 |
|
|
rs371159065
|
1.000 |
0.200 |
2 |
26277115 |
missense variant |
A/C;G
|
snv
|
8.0E-06;
1.1E-04
|
|
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
1996 |
2003 |
rs773127211
|
1.000 |
0.200 |
2 |
26277080 |
missense variant |
T/C
|
snv
|
8.0E-06
|
2.1E-05
|
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
1996 |
2003 |
rs113112630
|
1.000 |
0.200 |
2 |
26263480 |
splice donor variant |
G/A
|
snv
|
8.0E-06
|
|
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs759136382
|
1.000 |
0.200 |
2 |
26279189 |
stop gained |
C/G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2003 |
2003 |
rs1166120479
|
1.000 |
0.200 |
2 |
26279229 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1456890163
|
1.000 |
0.200 |
2 |
26244572 |
frameshift variant |
-/GCCAATCGCCCGGCAGGCC
|
delins
|
|
|
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs267606859
|
1.000 |
0.200 |
2 |
26285546 |
missense variant |
T/A;C;G
|
snv
|
4.0E-06;
1.6E-05;
4.0E-06
|
|
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs751772298
|
1.000 |
0.200 |
2 |
26280021 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs764623179
|
0.925 |
0.240 |
2 |
26284908 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs776172237
|
1.000 |
0.200 |
2 |
26269998 |
splice donor variant |
G/A
|
snv
|
4.0E-06
|
1.4E-05
|
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs780351691
|
1.000 |
0.200 |
2 |
26263451 |
missense variant |
C/T
|
snv
|
1.6E-05
|
7.0E-06
|
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs886037844
|
1.000 |
0.200 |
2 |
26277074 |
frameshift variant |
-/T
|
delins
|
|
|
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|