rs1060502619
|
|
TT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1060502634
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1060502637
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1060502653
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1556665052
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.
|
16770791 |
2006 |
rs1556665303
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1556962271
|
|
AAATG |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1557396600
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1569528101
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs182575709
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs373286166
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A case report with the peculiar concomitance of 2 different genetic syndromes.
|
27930565 |
2016 |
rs373286166
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.
|
22223181 |
2012 |
rs373286166
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients.
|
17854090 |
2008 |
rs373286166
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
|
17259292 |
2007 |
rs373286166
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
|
19937601 |
2009 |
rs398123909
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.
|
23453023 |
2013 |
rs398123923
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
|
25007885 |
2014 |
rs398123923
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.
|
16770791 |
2006 |
rs398124099
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Transposable elements in disease-associated cryptic exons.
|
19823873 |
2010 |
rs398124099
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene.
|
14659407 |
2004 |
rs398124099
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.
|
17041906 |
2007 |
rs72470513
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs878854366
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
|
27854218 |
2016 |
rs886039785
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1010666282
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.
|
25244321 |
2014 |