rs137852769
|
0.827 |
0.280 |
2 |
26195184 |
missense variant |
C/G
|
snv
|
1.2E-03
|
1.0E-03
|
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
|
0.790 |
1.000 |
13 |
1994 |
2017 |
rs1057516460
|
0.925 |
0.200 |
2 |
26204190 |
splice acceptor variant |
GATGCCTGCA/-
|
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 |
1.000 |
5 |
1995 |
2012 |
rs1167218743
|
0.925 |
0.200 |
2 |
26192309 |
splice donor variant |
C/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 |
1.000 |
5 |
1995 |
2012 |
rs1057516417
|
0.925 |
0.200 |
2 |
26234216 |
splice donor variant |
C/T
|
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
|
0.700 |
1.000 |
4 |
1995 |
2012 |
rs781205883
|
1.000 |
0.200 |
2 |
26236891 |
frameshift variant |
GAGAT/-
|
delins
|
8.0E-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 |
1.000 |
4 |
1999 |
2012 |
rs781222705
|
0.925 |
0.200 |
2 |
26238931 |
splice region variant |
T/C
|
snv
|
5.2E-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
|
0.700 |
1.000 |
4 |
1995 |
2016 |
rs769580842
|
0.925 |
0.200 |
2 |
26193668 |
frameshift variant |
AT/-
|
del
|
|
3.5E-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 |
2002 |
2003 |
rs786204607
|
1.000 |
0.200 |
2 |
26215149 |
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
|
0.700 |
1.000 |
3 |
2009 |
2012 |
rs137852771
|
0.925 |
0.200 |
2 |
26194581 |
stop gained |
G/A
|
snv
|
2.4E-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 |
1.000 |
2 |
1996 |
2016 |
rs779113356
|
0.925 |
0.200 |
2 |
26192343 |
frameshift variant |
A/-
|
delins
|
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 |
2 |
1999 |
2011 |
rs137852773
|
1.000 |
0.200 |
2 |
26214516 |
missense variant |
A/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
|
0.800 |
1.000 |
1 |
1998 |
1998 |
rs137852774
|
0.925 |
0.200 |
2 |
26214447 |
missense variant |
A/G;T
|
snv
|
4.0E-06;
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
|
0.800 |
1.000 |
1 |
1998 |
1998 |
rs749848370
|
1.000 |
0.200 |
2 |
26192311 |
frameshift variant |
TAGGAGGCAGCTTCAGACT/-
|
delins
|
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
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs137852770
|
0.925 |
0.200 |
2 |
26204150 |
stop gained |
G/A
|
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 |
|
|
rs137852775
|
0.925 |
0.200 |
2 |
26214490 |
stop gained |
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
|
0.700 |
|
0 |
|
|
rs138966725
|
1.000 |
0.200 |
2 |
26191498 |
missense variant |
G/A;T
|
snv
|
2.0E-04
|
1.6E-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 |
|
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 |
|
|
rs786205088
|
0.925 |
0.200 |
2 |
26238933 |
splice donor variant |
C/T
|
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
|
0.700 |
|
0 |
|
|