rs398124625
|
0.925 |
0.160 |
11 |
22203803 |
splice acceptor variant |
G/A
|
snv
|
1.2E-05
|
6.3E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2011 |
2015 |
rs868484837
|
0.925 |
0.160 |
11 |
22218245 |
splice acceptor variant |
G/-
|
del
|
4.0E-06
|
1.4E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2011 |
2015 |
rs1168346560
|
0.882 |
0.200 |
11 |
22218255 |
stop gained |
C/T
|
snv
|
|
7.0E-06
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs886043577
|
1.000 |
0.120 |
11 |
22218268 |
missense variant |
T/C
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2010 |
2015 |
rs201725369
|
0.925 |
0.160 |
11 |
22218279 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
1.0E-04
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2010 |
2016 |
rs137854521
|
0.851 |
0.200 |
11 |
22221100 |
frameshift variant |
-/A
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2010 |
2013 |
rs749645231
|
0.925 |
0.160 |
11 |
22221136 |
stop gained |
C/T
|
snv
|
2.8E-05
|
2.1E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2012 |
2015 |
rs34994927
|
1.000 |
0.120 |
11 |
22221175 |
missense variant |
G/A;C
|
snv
|
8.7E-04
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2010 |
2015 |
rs780109230
|
0.925 |
0.160 |
11 |
22225983 |
splice acceptor variant |
G/A
|
snv
|
4.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2011 |
2015 |
rs1064793358
|
0.925 |
0.160 |
11 |
22225988 |
frameshift variant |
G/-
|
del
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs878854367
|
1.000 |
0.120 |
11 |
22226041 |
frameshift variant |
G/-
|
del
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1554924356
|
0.925 |
0.160 |
11 |
22227350 |
stop gained |
G/T
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs115750596
|
1.000 |
0.120 |
11 |
22227542 |
missense variant |
G/A
|
snv
|
2.5E-03
|
9.5E-03
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2010 |
2015 |
rs78266558
|
1.000 |
0.120 |
11 |
22227554 |
missense variant |
A/G
|
snv
|
2.2E-03
|
9.0E-03
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2010 |
2015 |
rs773736505
|
1.000 |
0.120 |
11 |
22236161 |
splice acceptor variant |
A/G
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137854523
|
0.851 |
0.240 |
11 |
22236206 |
missense variant |
G/T
|
snv
|
1.0E-03
|
9.6E-04
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2010 |
2015 |
rs372221490
|
0.925 |
0.160 |
11 |
22236277 |
splice donor variant |
G/A
|
snv
|
1.6E-05
|
2.8E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2011 |
2015 |
rs745908606
|
1.000 |
0.120 |
11 |
22239603 |
missense variant |
C/T
|
snv
|
2.4E-05
|
1.8E-04
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2010 |
2015 |
rs138144479
|
1.000 |
0.120 |
11 |
22239606 |
missense variant |
C/G
|
snv
|
1.7E-03
|
7.1E-03
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2010 |
2015 |
rs1380525804
|
1.000 |
0.120 |
11 |
22239619 |
stop gained |
C/G;T
|
snv
|
|
7.0E-06
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398124626
|
0.925 |
0.160 |
11 |
22250345 |
frameshift variant |
-/T
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2013 |
2017 |
rs1554929301
|
0.925 |
0.160 |
11 |
22250815 |
stop gained |
G/A
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs561719071
|
0.925 |
0.160 |
11 |
22250950 |
splice acceptor variant |
G/A
|
snv
|
8.0E-06
|
7.0E-06
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2011 |
2015 |
rs1564936489
|
0.925 |
0.160 |
11 |
22250987 |
frameshift variant |
T/-
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs566415362
|
1.000 |
0.120 |
11 |
22255400 |
stop gained |
C/G;T
|
snv
|
4.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2012 |
2013 |