rs397515393
|
1.000 |
0.120 |
17 |
80039966 |
frameshift variant |
C/-
|
del
|
4.4E-04
|
2.9E-04
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
6 |
2011 |
2016 |
rs1346603171
|
|
|
17 |
80048762 |
splice donor variant |
G/A
|
snv
|
4.4E-06
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2011 |
2013 |
rs1568709952
|
|
|
17 |
80084989 |
splice donor variant |
G/T
|
snv
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2011 |
2013 |
rs370706991
|
1.000 |
0.120 |
17 |
80089763 |
splice acceptor variant |
G/A;T
|
snv
|
4.0E-06;
3.6E-05
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2011 |
2013 |
rs397515393
|
1.000 |
0.120 |
17 |
80039966 |
frameshift variant |
C/-
|
del
|
4.4E-04
|
2.9E-04
|
CILIARY DYSKINESIA, PRIMARY, 15
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2011 |
2013 |
rs750708201
|
|
|
17 |
80050062 |
splice acceptor variant |
A/G
|
snv
|
1.6E-05
|
7.0E-06
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2011 |
2013 |
rs370706991
|
1.000 |
0.120 |
17 |
80089763 |
splice acceptor variant |
G/A;T
|
snv
|
4.0E-06;
3.6E-05
|
|
CILIARY DYSKINESIA, PRIMARY, 15
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2012 |
2013 |
rs747233125
|
|
|
17 |
80086207 |
stop gained |
C/G;T
|
snv
|
8.8E-06
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2011 |
2013 |
rs371595543
|
|
|
17 |
80058646 |
stop gained |
A/T
|
snv
|
1.6E-05
|
7.0E-06
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs387907092
|
1.000 |
0.120 |
17 |
80082020 |
stop gained |
C/A;T
|
snv
|
4.0E-06
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs764011276
|
|
|
17 |
80058955 |
frameshift variant |
G/-
|
delins
|
|
7.0E-06
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs863224519
|
|
|
17 |
80097320 |
stop gained |
A/T
|
snv
|
|
7.0E-06
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1060501719
|
|
|
17 |
80087748 |
frameshift variant |
CA/ACCG
|
delins
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1418585908
|
|
|
17 |
80097352 |
frameshift variant |
C/-
|
del
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1567818236
|
|
|
17 |
80097378 |
frameshift variant |
C/-
|
delins
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1568667609
|
|
|
17 |
80040142 |
stop gained |
C/T
|
snv
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs374909386
|
|
|
17 |
80099700 |
stop gained |
C/A;T
|
snv
|
1.6E-05;
3.2E-05
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs387907091
|
1.000 |
0.120 |
17 |
80058649 |
stop gained |
C/T
|
snv
|
|
|
CILIARY DYSKINESIA, PRIMARY, 15
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs387907092
|
1.000 |
0.120 |
17 |
80082020 |
stop gained |
C/A;T
|
snv
|
4.0E-06
|
|
CILIARY DYSKINESIA, PRIMARY, 15
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs387907093
|
1.000 |
0.120 |
17 |
80058885 |
stop gained |
C/A;G;T
|
snv
|
4.0E-06
|
|
CILIARY DYSKINESIA, PRIMARY, 15
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs587778819
|
1.000 |
0.160 |
17 |
80089876 |
frameshift variant |
-/CTGT;TGT
|
ins
|
3.6E-05
|
|
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs587778819
|
1.000 |
0.160 |
17 |
80089876 |
frameshift variant |
-/CTGT;TGT
|
ins
|
3.6E-05
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs745993158
|
1.000 |
0.160 |
17 |
80082059 |
splice donor variant |
G/A
|
snv
|
4.0E-06
|
|
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs751191119
|
|
|
17 |
80084935 |
frameshift variant |
GG/-
|
delins
|
2.8E-05
|
7.0E-06
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs754867753
|
1.000 |
0.120 |
17 |
80050085 |
stop gained |
C/T
|
snv
|
2.4E-05
|
7.0E-06
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|