rs574660186
|
0.807 |
0.200 |
2 |
178579702 |
stop gained |
G/A;C
|
snv
|
1.6E-05
|
3.5E-05
|
Myopathy, Early-Onset, with Fatal Cardiomyopathy
|
Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs1553543413
|
0.807 |
0.200 |
2 |
178553783 |
frameshift variant |
-/T
|
delins
|
|
|
Myopathy, Early-Onset, with Fatal Cardiomyopathy
|
Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553809971
|
1.000 |
0.120 |
2 |
178672415 |
frameshift variant |
G/-
|
delins
|
|
|
Myopathy, Early-Onset, with Fatal Cardiomyopathy
|
Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1559173391
|
1.000 |
0.120 |
2 |
178548813 |
frameshift variant |
-/T
|
delins
|
|
|
Myopathy, Early-Onset, with Fatal Cardiomyopathy
|
Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1560513651
|
1.000 |
0.120 |
2 |
178704408 |
splice acceptor variant |
C/G
|
snv
|
|
|
Myopathy, Early-Onset, with Fatal Cardiomyopathy
|
Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs199469665
|
1.000 |
0.120 |
2 |
178531080 |
frameshift variant |
CACTTGGT/-
|
delins
|
|
|
Myopathy, Early-Onset, with Fatal Cardiomyopathy
|
Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs587776772
|
1.000 |
0.120 |
2 |
178529083 |
frameshift variant |
T/-
|
delins
|
|
|
Myopathy, Early-Onset, with Fatal Cardiomyopathy
|
Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs794729340
|
0.807 |
0.200 |
2 |
178570991 |
frameshift variant |
TCTT/-
|
delins
|
|
|
Myopathy, Early-Onset, with Fatal Cardiomyopathy
|
Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs869178171
|
0.790 |
0.200 |
2 |
178563475 |
stop gained |
C/A
|
snv
|
|
|
Myopathy, Early-Onset, with Fatal Cardiomyopathy
|
Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs869312099
|
0.807 |
0.200 |
2 |
178738361 |
splice acceptor variant |
C/T
|
snv
|
4.1E-06
|
1.4E-05
|
Myopathy, Early-Onset, with Fatal Cardiomyopathy
|
Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|