rs1210953680
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1275367324
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1285431486
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1415346246
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553803540
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553804100
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1553804209
|
|
GT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553804220
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553804640
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553805740
|
|
CTG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553805885
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1560086701
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1560090006
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1560092160
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1560092440
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs201780665
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
|
23255504 |
2013 |
rs201780665
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.
|
24498942 |
2014 |
rs397515392
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
|
23255504 |
2013 |
rs397515392
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
|
21131972 |
2011 |
rs397515392
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Umbilical bile staining in a patient with gall-bladder perforation.
|
22693295 |
2011 |
rs577069249
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
|
21131972 |
2011 |
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 |
rs587778820
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
|
21131972 |
2011 |
rs587778822
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
|
21131972 |
2011 |
rs587778822
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
|
22693285 |
2012 |