|
rs193919336
|
0.882 |
0.160 |
1 |
46193873 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06;
1.6E-05
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
9 |
2001 |
2010 |
|
rs193919335
|
0.925 |
0.160 |
1 |
46190473 |
missense variant |
C/A;T
|
snv
|
4.0E-06
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2001 |
2008 |
|
rs28940869
|
0.827 |
0.160 |
1 |
46192397 |
missense variant |
G/A
|
snv
|
|
3.5E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2001 |
2008 |
|
rs28942068
|
1.000 |
0.120 |
1 |
46192159 |
missense variant |
G/C
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2001 |
2008 |
|
rs267606960
|
0.827 |
0.160 |
1 |
46192168 |
missense variant |
C/T
|
snv
|
2.4E-05
|
4.2E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2001 |
2010 |
|
rs386834010
|
0.925 |
0.160 |
1 |
46194359 |
missense variant |
C/G;T
|
snv
|
4.0E-05
|
4.2E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2001 |
2010 |
|
rs386834011
|
0.925 |
0.160 |
1 |
46192528 |
missense variant |
C/G
|
snv
|
4.0E-06
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2001 |
2010 |
|
rs386834030
|
0.925 |
0.160 |
1 |
46195819 |
missense variant |
T/C;G
|
snv
|
4.5E-06
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2001 |
2010 |
|
rs386834032
|
0.925 |
0.160 |
1 |
46194902 |
missense variant |
G/C
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2001 |
2010 |
|
rs386834036
|
0.925 |
0.160 |
1 |
46194637 |
missense variant |
C/T
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2001 |
2010 |
|
rs386834037
|
0.925 |
0.160 |
1 |
46194347 |
missense variant |
C/T
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2001 |
2010 |
|
rs762972459
|
1.000 |
0.120 |
1 |
46193315 |
missense variant |
C/T
|
snv
|
1.2E-05
|
1.4E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2001 |
2008 |
|
rs193919337
|
0.925 |
0.120 |
1 |
46197018 |
stop gained |
G/A
|
snv
|
|
1.4E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs267606961
|
1.000 |
0.120 |
1 |
46192212 |
stop gained |
C/T
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs386834017
|
0.925 |
0.160 |
1 |
46189920 |
frameshift variant |
G/-
|
del
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs386834022
|
0.925 |
0.160 |
1 |
46189477 |
frameshift variant |
C/-
|
delins
|
|
1.4E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs587777821
|
1.000 |
0.120 |
1 |
46192307 |
splice donor variant |
C/A;G;T
|
snv
|
1.2E-05;
4.0E-06
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs587777822
|
1.000 |
0.120 |
1 |
46189521 |
frameshift variant |
A/-
|
del
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|