rs869320740
|
0.851 |
0.200 |
2 |
178546102 |
missense variant |
A/G
|
snv
|
4.1E-06
|
|
Hereditary Myopathy with Early Respiratory Failure
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases
|
0.730 |
1.000 |
3 |
2014 |
2016 |
rs753334568
|
0.882 |
0.200 |
2 |
178546041 |
missense variant |
G/A
|
snv
|
1.2E-05
|
1.4E-05
|
Hereditary Myopathy with Early Respiratory Failure
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2014 |
2014 |
rs574660186
|
0.807 |
0.200 |
2 |
178579702 |
stop gained |
G/A;C
|
snv
|
1.6E-05
|
3.5E-05
|
Hereditary Myopathy with Early Respiratory Failure
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs1553543413
|
0.807 |
0.200 |
2 |
178553783 |
frameshift variant |
-/T
|
delins
|
|
|
Hereditary Myopathy with Early Respiratory Failure
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1559187287
|
1.000 |
0.160 |
2 |
178550221 |
frameshift variant |
-/TT
|
delins
|
|
|
Hereditary Myopathy with Early Respiratory Failure
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1560689563
|
1.000 |
0.160 |
2 |
178722307 |
missense variant |
A/G
|
snv
|
|
|
Hereditary Myopathy with Early Respiratory Failure
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs786205367
|
1.000 |
0.160 |
2 |
178546050 |
missense variant |
C/A;G
|
snv
|
|
|
Hereditary Myopathy with Early Respiratory Failure
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs794729340
|
0.807 |
0.200 |
2 |
178570991 |
frameshift variant |
TCTT/-
|
delins
|
|
|
Hereditary Myopathy with Early Respiratory Failure
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs869178171
|
0.790 |
0.200 |
2 |
178563475 |
stop gained |
C/A
|
snv
|
|
|
Hereditary Myopathy with Early Respiratory Failure
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs869312099
|
0.807 |
0.200 |
2 |
178738361 |
splice acceptor variant |
C/T
|
snv
|
4.1E-06
|
1.4E-05
|
Hereditary Myopathy with Early Respiratory Failure
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs869320739
|
1.000 |
0.160 |
2 |
178546110 |
missense variant |
G/C;T
|
snv
|
|
|
Hereditary Myopathy with Early Respiratory Failure
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs869320741
|
0.925 |
0.200 |
2 |
178546051 |
missense variant |
A/G
|
snv
|
|
|
Hereditary Myopathy with Early Respiratory Failure
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs869320742
|
1.000 |
0.160 |
2 |
178546049 |
missense variant |
C/G
|
snv
|
|
|
Hereditary Myopathy with Early Respiratory Failure
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs869320743
|
1.000 |
0.160 |
2 |
178545878 |
missense variant |
G/C
|
snv
|
|
|
Hereditary Myopathy with Early Respiratory Failure
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs140319117
|
1.000 |
0.160 |
2 |
178534344 |
missense variant |
G/A
|
snv
|
1.1E-03;
4.0E-06
|
9.4E-04
|
Hereditary Myopathy with Early Respiratory Failure
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |