rs121912940
|
1.000 |
0.120 |
21 |
46115881 |
missense variant |
G/A
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
5 |
1996 |
2010 |
rs267606750
|
1.000 |
0.120 |
21 |
46125509 |
missense variant |
G/A
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
3 |
2002 |
2010 |
rs267606747
|
0.925 |
0.160 |
21 |
46126144 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs117725825
|
1.000 |
0.120 |
21 |
46132287 |
missense variant |
C/G;T
|
snv
|
2.5E-03
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
|
0 |
|
|
rs267606748
|
0.882 |
0.160 |
21 |
46115917 |
missense variant |
G/A
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1993 |
2013 |
rs727502827
|
1.000 |
0.120 |
21 |
46116010 |
missense variant |
G/A;T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1993 |
2013 |
rs747900252
|
0.925 |
0.160 |
21 |
46125776 |
intron variant |
G/A
|
snv
|
1.1E-04
|
7.7E-05
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2009 |
2015 |
rs1555873356
|
1.000 |
0.120 |
21 |
46117398 |
splice acceptor variant |
A/C;G
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2007 |
2010 |
rs727502828
|
1.000 |
0.120 |
21 |
46116027 |
missense variant |
G/A;C
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1994 |
2013 |
rs794727418
|
1.000 |
0.120 |
21 |
46125913 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1996 |
2007 |
rs886042332
|
1.000 |
0.120 |
21 |
46121593 |
missense variant |
G/A
|
snv
|
4.0E-06
|
2.1E-05
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1994 |
2013 |
rs1555877252
|
1.000 |
0.120 |
21 |
46132064 |
stop gained |
C/T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2009 |
2015 |
rs1568928804
|
1.000 |
0.120 |
21 |
46115909 |
missense variant |
G/A
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1994 |
2013 |
rs1568929639
|
1.000 |
0.120 |
21 |
46116767 |
splice acceptor variant |
CAG/AA
|
delins
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2008 |
2010 |
rs387906609
|
0.925 |
0.120 |
21 |
46117916 |
stop gained |
C/T
|
snv
|
4.0E-06
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2009 |
2014 |
rs794727715
|
1.000 |
0.120 |
21 |
46114074 |
splice donor variant |
G/A;T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2008 |
2010 |
rs886044088
|
1.000 |
0.120 |
21 |
46115918 |
missense variant |
G/A
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1994 |
2013 |
rs886044023
|
1.000 |
0.120 |
21 |
46117872 |
splice acceptor variant |
A/G
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2009 |
2010 |
rs374669775
|
1.000 |
0.120 |
21 |
46121067 |
stop gained |
C/T
|
snv
|
1.2E-05
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs770842374
|
1.000 |
0.120 |
21 |
46111593 |
splice donor variant |
T/C
|
snv
|
8.1E-06
|
2.1E-05
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs878854362
|
1.000 |
0.120 |
21 |
46116677 |
missense variant |
G/A;T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1375040481
|
1.000 |
0.120 |
21 |
46112504 |
frameshift variant |
ACGAC/-
|
del
|
4.1E-06
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs138948335
|
1.000 |
0.120 |
21 |
46125817 |
stop gained |
G/A;T
|
snv
|
1.0E-04
|
1.4E-05
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555873353
|
1.000 |
0.120 |
21 |
46117387 |
splice acceptor variant |
CCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCT/-
|
del
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555873507
|
1.000 |
0.120 |
21 |
46117873 |
splice region variant |
G/-
|
delins
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|