rs1057524468
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Calpainopathy-a survey of mutations and polymorphisms.
|
10330340 |
1999 |
rs1057524468
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
|
15689361 |
2005 |
rs1064793620
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1085307995
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Suppressed disassembly of autolyzing p94/CAPN3 by N2A connectin/titin in a genetic reporter system.
|
16627476 |
2006 |
rs1085307995
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Suppressed disassembly of autolyzing p94/CAPN3 by N2A connectin/titin in a genetic reporter system.
|
16627476 |
2006 |
rs1085307995
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.
|
28915917 |
2017 |
rs1085307995
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.
|
28915917 |
2017 |
rs1085307995
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |
rs121434544
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Respiratory chain deficiency in nonmitochondrial disease.
|
27066545 |
2015 |
rs121434544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.
|
8624690 |
1996 |
rs121434544
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Protein sequences encode safeguards against aggregation.
|
19156839 |
2009 |
rs121434544
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population.
|
10102422 |
1999 |
rs121434544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
|
15221789 |
2004 |
rs121434544
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.
|
9642272 |
1998 |
rs121434544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
|
9150160 |
1997 |
rs121434544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
|
27708273 |
2017 |
rs121434544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.
|
9642272 |
1998 |
rs121434544
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
|
27708273 |
2017 |
rs121434544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Screening of the CAPN3 gene in patients with possible LGMD2A.
|
16650086 |
2006 |
rs121434544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Calpainopathy-a survey of mutations and polymorphisms.
|
10330340 |
1999 |
rs121434544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population.
|
10102422 |
1999 |
rs121434544
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Calpainopathy-a survey of mutations and polymorphisms.
|
10330340 |
1999 |
rs121434544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Respiratory chain deficiency in nonmitochondrial disease.
|
27066545 |
2015 |
rs121434544
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Screening of the CAPN3 gene in patients with possible LGMD2A.
|
16650086 |
2006 |
rs121434544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
|
7720071 |
1995 |