rs145457535
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.
|
28790179 |
2018 |
rs397515363
|
|
GT |
0.700 |
CausalMutation |
CLINVAR |
Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients.
|
29363216 |
2018 |
rs1161303371
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.
|
26228299 |
2016 |
rs138890576
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.
|
26228299 |
2016 |
rs145457535
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.
|
27637300 |
2016 |
rs397515363
|
|
GT |
0.700 |
CausalMutation |
CLINVAR |
DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia.
|
26918822 |
2016 |
rs397515393
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature.
|
25619595 |
2016 |
rs548521732
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.
|
27637300 |
2016 |
rs575017579
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia.
|
27618201 |
2016 |
rs587777499
|
|
TGGGCC |
0.700 |
CausalMutation |
CLINVAR |
Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.
|
26777464 |
2016 |
rs587778820
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.
|
27637300 |
2016 |
rs752925056
|
|
AT |
0.700 |
CausalMutation |
CLINVAR |
An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.
|
26228299 |
2016 |
rs753130398
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.
|
27637300 |
2016 |
rs753130398
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.
|
26228299 |
2016 |
rs757784023
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.
|
27637300 |
2016 |
rs773711154
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia.
|
27779714 |
2016 |
rs1060503388
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
|
26139845 |
2015 |
rs1305797678
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey.
|
24905662 |
2015 |
rs138320978
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
|
26139845 |
2015 |
rs145457535
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.
|
26123568 |
2015 |
rs200693106
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.
|
25802884 |
2015 |
rs200901816
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
|
26139845 |
2015 |
rs368260932
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
|
26139845 |
2015 |
rs587777499
|
|
TGGGCC |
0.700 |
CausalMutation |
CLINVAR |
Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.
|
24824133 |
2015 |
rs727502973
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Ciliary function and motor protein composition of human fallopian tubes.
|
26373788 |
2015 |