rs397515332
|
1.000 |
0.120 |
2 |
237361138 |
missense variant |
C/G;T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1994 |
2017 |
rs886043737
|
1.000 |
0.120 |
2 |
237360158 |
missense variant |
C/T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1993 |
2013 |
rs886044252
|
1.000 |
0.120 |
2 |
237360150 |
missense variant |
C/T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1994 |
2013 |
rs886042883
|
1.000 |
0.120 |
2 |
237359205 |
splice donor variant |
C/A;T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2005 |
2017 |
rs1230578718
|
1.000 |
0.120 |
2 |
237380914 |
splice donor variant |
C/A
|
snv
|
|
7.0E-06
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2005 |
2010 |
rs1268762655
|
1.000 |
0.120 |
2 |
237350173 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1994 |
2013 |
rs1553553267
|
1.000 |
0.120 |
2 |
237359235 |
splice acceptor variant |
TTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGT/-
|
delins
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2005 |
2010 |
rs1553553646
|
1.000 |
0.120 |
2 |
237360140 |
missense variant |
C/A;T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1994 |
2013 |
rs1559225993
|
1.000 |
0.120 |
2 |
237359252 |
splice acceptor variant |
T/C
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2005 |
2010 |
rs886043919
|
0.925 |
0.160 |
2 |
237359361 |
splice donor variant |
C/A;T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2007 |
2013 |
rs121434555
|
1.000 |
0.120 |
2 |
237367010 |
missense variant |
A/C
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs1559234260
|
1.000 |
0.120 |
2 |
237365697 |
splice donor variant |
C/A
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs398124126
|
0.882 |
0.160 |
2 |
237361120 |
splice donor variant |
C/T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs794727188
|
1.000 |
0.120 |
2 |
237360131 |
missense variant |
C/T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs121434553
|
1.000 |
0.120 |
2 |
237367151 |
missense variant |
C/T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
|
0 |
|
|
rs1553553313
|
1.000 |
0.120 |
2 |
237359334 |
splice acceptor variant |
TTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCAC/-
|
del
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553561409
|
1.000 |
0.120 |
2 |
237377222 |
stop gained |
G/A
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1559225974
|
1.000 |
0.120 |
2 |
237359238 |
inframe deletion |
CCT/-
|
delins
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1559261557
|
1.000 |
0.120 |
2 |
237381113 |
stop gained |
G/A
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs797044988
|
0.882 |
0.160 |
2 |
237359390 |
splice acceptor variant |
T/G
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs777304794
|
1.000 |
0.120 |
2 |
237366707 |
frameshift variant |
C/-
|
delins
|
4.0E-06
|
7.0E-06
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs763187844
|
1.000 |
0.120 |
2 |
237396742 |
stop gained |
G/A
|
snv
|
4.0E-06
|
1.4E-05
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs764193290
|
0.882 |
0.160 |
2 |
237342163 |
splice acceptor variant |
T/-
|
del
|
4.0E-06
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs878854379
|
0.925 |
0.120 |
2 |
237344754 |
stop gained |
G/A;C
|
snv
|
4.1E-06
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs761796175
|
1.000 |
0.120 |
2 |
237377336 |
stop gained |
G/A
|
snv
|
4.2E-06
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|