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 |
|
|
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 |
|
|
rs1555873508
|
1.000 |
0.120 |
21 |
46117876 |
frameshift variant |
C/-
|
delins
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs61735828
|
1.000 |
0.120 |
21 |
46121563 |
missense variant |
G/A;C
|
snv
|
1.7E-03
|
6.1E-03
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs727502832
|
1.000 |
0.120 |
21 |
46116387 |
missense variant |
G/T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs749974929
|
1.000 |
0.120 |
21 |
46121554 |
splice acceptor variant |
A/G
|
snv
|
4.0E-06
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs751987553
|
0.925 |
0.120 |
21 |
46125301 |
stop gained |
C/A;T
|
snv
|
2.8E-05
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs752730608
|
1.000 |
0.120 |
21 |
46119812 |
stop gained |
A/G;T
|
snv
|
2.8E-05
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs794727788
|
1.000 |
0.120 |
21 |
46115882 |
missense variant |
G/A;T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs794727855
|
1.000 |
0.120 |
21 |
46116028 |
missense variant |
G/T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs863224861
|
1.000 |
0.120 |
21 |
46125911 |
missense variant |
G/A
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs886043323
|
1.000 |
0.120 |
21 |
46115908 |
missense variant |
G/A;C
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs886044398
|
1.000 |
0.120 |
21 |
46124896 |
frameshift variant |
C/-
|
delins
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
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 |
rs373072443
|
1.000 |
0.120 |
21 |
46131980 |
missense variant |
C/T
|
snv
|
3.4E-05
|
2.8E-05
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs761310536
|
1.000 |
0.120 |
21 |
46121115 |
missense variant |
G/A
|
snv
|
1.2E-05
|
7.0E-06
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
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 |
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 |
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 |