rs398124245
|
|
0.851 |
0.120 |
9 |
131523025 |
frameshift variant
|
-/G
|
delins
|
|
2.1E-04
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
|
0.700 |
1.000 |
6 |
2002 |
2014 |
rs398124245
|
|
0.851 |
0.120 |
9 |
131523025 |
frameshift variant
|
-/G
|
delins
|
|
2.1E-04
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
1.000 |
6 |
2002 |
2014 |
rs398124245
|
|
0.851 |
0.120 |
9 |
131523025 |
frameshift variant
|
-/G
|
delins
|
|
2.1E-04
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
|
0.700 |
1.000 |
6 |
2002 |
2014 |
rs398124245
|
|
0.851 |
0.120 |
9 |
131523025 |
frameshift variant
|
-/G
|
delins
|
|
2.1E-04
|
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
|
0.700 |
|
0 |
|
|
rs587777817
|
|
1.000 |
0.120 |
9 |
131522970 |
frameshift variant
|
-/G
|
delins
|
|
|
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
|
0.700 |
|
0 |
|
|
rs1356791510
|
|
0.882 |
0.120 |
9 |
131510058 |
frameshift variant
|
A/-
|
del
|
8.0E-06
|
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
|
0 |
|
|
rs1356791510
|
|
0.882 |
0.120 |
9 |
131510058 |
frameshift variant
|
A/-
|
del
|
8.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
|
0.700 |
|
0 |
|
|
rs1356791510
|
|
0.882 |
0.120 |
9 |
131510058 |
frameshift variant
|
A/-
|
del
|
8.0E-06
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
|
0.700 |
|
0 |
|
|
rs1453773610
|
|
0.882 |
0.120 |
9 |
131512039 |
splice acceptor variant
|
A/C;T
|
snv
|
|
7.0E-06
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
1.000 |
3 |
2002 |
2006 |
rs1453773610
|
|
0.882 |
0.120 |
9 |
131512039 |
splice acceptor variant
|
A/C;T
|
snv
|
|
7.0E-06
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
|
0.700 |
1.000 |
3 |
2002 |
2006 |
rs1453773610
|
|
0.882 |
0.120 |
9 |
131512039 |
splice acceptor variant
|
A/C;T
|
snv
|
|
7.0E-06
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
|
0.700 |
1.000 |
3 |
2002 |
2006 |
rs397514501
|
|
1.000 |
0.120 |
9 |
131508913 |
missense variant
|
A/G
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
|
0.700 |
|
0 |
|
|
rs587777820
|
|
1.000 |
0.120 |
9 |
131507503 |
inframe deletion
|
ATG/-
|
delins
|
|
|
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
|
0.700 |
|
0 |
|
|
rs1564341846
|
|
0.790 |
0.280 |
9 |
131508926 |
missense variant
|
C/A
|
snv
|
|
|
Congenital microcephaly
|
0.700 |
|
0 |
|
|
rs1564341846
|
|
0.790 |
0.280 |
9 |
131508926 |
missense variant
|
C/A
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
|
0.700 |
|
0 |
|
|
rs1564341846
|
|
0.790 |
0.280 |
9 |
131508926 |
missense variant
|
C/A
|
snv
|
|
|
Strabismus
|
0.700 |
|
0 |
|
|
rs1564341846
|
|
0.790 |
0.280 |
9 |
131508926 |
missense variant
|
C/A
|
snv
|
|
|
Flexion contracture
|
0.700 |
|
0 |
|
|
rs1564341846
|
|
0.790 |
0.280 |
9 |
131508926 |
missense variant
|
C/A
|
snv
|
|
|
Congenital muscular dystrophy (disorder)
|
0.700 |
|
0 |
|
|
rs1564341846
|
|
0.790 |
0.280 |
9 |
131508926 |
missense variant
|
C/A
|
snv
|
|
|
Moderate intellectual disability
|
0.700 |
|
0 |
|
|
rs1564341846
|
|
0.790 |
0.280 |
9 |
131508926 |
missense variant
|
C/A
|
snv
|
|
|
Scoliosis, unspecified
|
0.700 |
|
0 |
|
|
rs1564341846
|
|
0.790 |
0.280 |
9 |
131508926 |
missense variant
|
C/A
|
snv
|
|
|
Quadriparesis
|
0.700 |
|
0 |
|
|
rs200056620
|
|
0.882 |
0.120 |
9 |
131513243 |
stop gained
|
C/G;T
|
snv
|
4.0E-06;
3.6E-05
|
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
1.000 |
2 |
2002 |
2016 |
rs200056620
|
|
0.882 |
0.120 |
9 |
131513243 |
stop gained
|
C/G;T
|
snv
|
4.0E-06;
3.6E-05
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
|
0.700 |
1.000 |
2 |
2002 |
2016 |
rs200056620
|
|
0.882 |
0.120 |
9 |
131513243 |
stop gained
|
C/G;T
|
snv
|
4.0E-06;
3.6E-05
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
|
0.700 |
1.000 |
2 |
2002 |
2016 |
rs119462985
|
|
0.925 |
0.120 |
9 |
131518945 |
stop gained
|
C/G;T
|
snv
|
4.0E-06
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
|
0.700 |
|
0 |
|
|