rs1057516360
|
1.000 |
0.200 |
4 |
52033455 |
frameshift variant |
ACAA/-
|
delins
|
|
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1057517051
|
1.000 |
0.200 |
4 |
52028799 |
frameshift variant |
TA/-
|
delins
|
|
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1057517064
|
1.000 |
0.200 |
4 |
52038227 |
frameshift variant |
TTCTG/-
|
delins
|
|
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1057517205
|
1.000 |
0.200 |
4 |
52038252 |
start lost |
ATCTTCCCGCGCCCGCCGCCGCC/-
|
delins
|
|
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1264362642
|
1.000 |
0.200 |
4 |
52028729 |
splice donor variant |
C/A
|
snv
|
8.0E-06
|
7.0E-06
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1448040082
|
1.000 |
0.200 |
4 |
52038232 |
stop gained |
C/A;T
|
snv
|
|
1.4E-05
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553940079
|
1.000 |
0.200 |
4 |
52028071 |
frameshift variant |
T/-
|
delins
|
|
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553940274
|
1.000 |
0.200 |
4 |
52029853 |
frameshift variant |
CA/-
|
delins
|
|
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553940661
|
1.000 |
0.200 |
4 |
52033429 |
splice donor variant |
A/C
|
snv
|
|
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553940663
|
1.000 |
0.200 |
4 |
52033430 |
splice donor variant |
C/A
|
snv
|
|
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553940687
|
1.000 |
0.200 |
4 |
52033588 |
frameshift variant |
CTCTC/-
|
del
|
|
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553940957
|
1.000 |
0.200 |
4 |
52038226 |
splice donor variant |
C/T
|
snv
|
|
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553940963
|
1.000 |
0.200 |
4 |
52038237 |
start retained variant |
-/CTGCCGCCATCTTCCCGCGCCCGCCGCCGCCG
|
delins
|
|
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs752492870
|
0.925 |
0.200 |
4 |
52038229 |
stop gained |
G/A;C
|
snv
|
2.3E-04
|
|
Beta-sarcoglycanopathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs775458201
|
1.000 |
0.200 |
4 |
52028064 |
frameshift variant |
TT/-;T
|
delins
|
4.0E-06
|
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs779516489
|
1.000 |
0.200 |
4 |
52028852 |
missense variant |
C/T
|
snv
|
1.2E-05
|
7.0E-06
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs150518260
|
0.925 |
0.200 |
4 |
52029766 |
missense variant |
G/A
|
snv
|
2.8E-04
|
1.8E-04
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
15 |
1996 |
2018 |
rs555514820
|
1.000 |
0.200 |
4 |
52029836 |
missense variant |
G/A
|
snv
|
2.0E-05
|
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
9 |
1996 |
2018 |
rs104893871
|
1.000 |
0.200 |
4 |
52029808 |
missense variant |
A/T
|
snv
|
|
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
8 |
1996 |
2018 |
rs28936383
|
1.000 |
0.200 |
4 |
52028899 |
missense variant |
G/C
|
snv
|
|
1.4E-05
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
8 |
1995 |
2018 |
rs752492870
|
0.925 |
0.200 |
4 |
52038229 |
stop gained |
G/A;C
|
snv
|
2.3E-04
|
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
7 |
1996 |
2018 |
rs150518260
|
0.925 |
0.200 |
4 |
52029766 |
missense variant |
G/A
|
snv
|
2.8E-04
|
1.8E-04
|
Beta-sarcoglycanopathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
1997 |
2012 |
rs104893869
|
1.000 |
0.200 |
4 |
52029835 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
5 |
1996 |
2018 |
rs104893870
|
1.000 |
0.200 |
4 |
52029784 |
missense variant |
A/C
|
snv
|
|
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
5 |
1996 |
2018 |
rs762412447
|
1.000 |
0.200 |
4 |
52029752 |
missense variant |
T/A
|
snv
|
2.0E-05
|
|
Limb-girdle muscular dystrophy, type 2E
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
1996 |
2018 |