rs398122853
|
0.882 |
0.160 |
X |
33211304 |
stop gained |
C/T
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.710 |
1.000 |
3 |
2009 |
2017 |
rs794726993
|
0.882 |
0.160 |
X |
32645020 |
stop gained |
G/A;C
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2009 |
2017 |
rs267606771
|
1.000 |
0.120 |
X |
32448611 |
stop gained |
C/A
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
1997 |
1997 |
rs398123909
|
0.882 |
0.160 |
X |
32472310 |
splice acceptor variant |
C/A;T
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs749989940
|
1.000 |
0.120 |
X |
32545253 |
missense variant |
C/T
|
snv
|
5.5E-06
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs104894787
|
0.882 |
0.160 |
X |
31178784 |
stop gained |
G/A
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1280415176
|
1.000 |
0.120 |
X |
32645113 |
missense variant |
A/T
|
snv
|
1.1E-05
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs128626236
|
1.000 |
0.120 |
X |
32816495 |
missense variant |
G/T
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs128626237
|
1.000 |
0.120 |
X |
32699252 |
missense variant |
A/T
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs128627256
|
0.882 |
0.160 |
X |
31478330 |
stop gained |
G/A
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1556880354
|
0.925 |
0.120 |
X |
31774193 |
splice acceptor variant |
C/T
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1557047827
|
0.925 |
0.120 |
X |
32809512 |
frameshift variant |
C/-
|
del
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1557380616
|
0.925 |
0.120 |
X |
32485053 |
stop gained |
A/T
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569546198
|
1.000 |
0.120 |
X |
31479104 |
splice acceptor variant |
C/G
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569564916
|
1.000 |
0.120 |
X |
32501752 |
splice region variant |
T/A;G
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398123832
|
0.882 |
0.160 |
X |
31178721 |
stop gained |
G/A
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398123929
|
0.882 |
0.160 |
X |
32468509 |
stop gained |
G/A
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398123935
|
0.882 |
0.160 |
X |
32463576 |
stop gained |
G/A
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398124105
|
0.925 |
0.120 |
X |
31182849 |
frameshift variant |
CATCCAGTCT/-
|
delins
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs5030730
|
0.925 |
0.160 |
X |
32438372 |
stop gained |
G/A
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587776747
|
0.925 |
0.160 |
X |
31261301 |
non coding transcript exon variant |
T/C
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs779739455
|
0.925 |
0.120 |
X |
31968451 |
splice acceptor variant |
C/A;G
|
snv
|
5.5E-06
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs863225016
|
1.000 |
0.120 |
X |
32849821 |
splice acceptor variant |
C/A;T
|
snv
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs886042840
|
0.925 |
0.120 |
X |
31178789 |
inframe deletion |
TCT/-
|
delins
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs886043375
|
0.925 |
0.120 |
X |
31169543 |
frameshift variant |
G/-;GG
|
delins
|
|
|
Becker Muscular Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|