rs587777499
|
0.925 |
0.160 |
5 |
55233261 |
frameshift variant |
-/CGGGC;CGGGCCGGGC
|
delins
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2014 |
2016 |
rs1060503388
|
|
|
5 |
55231653 |
stop gained |
G/A
|
snv
|
5.3E-06
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2014 |
2015 |
rs587777498
|
0.925 |
0.160 |
5 |
55233272 |
frameshift variant |
CAGGG/-;CAGGGCAGGG
|
delins
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs587777502
|
0.925 |
0.160 |
5 |
55233256 |
frameshift variant |
-/TGGGC
|
delins
|
4.9E-06;
1.3E-04;
4.9E-06;
2.0E-05
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1554019966
|
|
|
5 |
55232365 |
missense variant |
T/C
|
snv
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs587777498
|
0.925 |
0.160 |
5 |
55233272 |
frameshift variant |
CAGGG/-;CAGGGCAGGG
|
delins
|
|
|
CILIARY DYSKINESIA, PRIMARY, 29
|
|
0.700 |
|
0 |
|
|
rs587777498
|
0.925 |
0.160 |
5 |
55233272 |
frameshift variant |
CAGGG/-;CAGGGCAGGG
|
delins
|
|
|
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 |
|
|
rs587777499
|
0.925 |
0.160 |
5 |
55233261 |
frameshift variant |
-/CGGGC;CGGGCCGGGC
|
delins
|
|
|
CILIARY DYSKINESIA, PRIMARY, 29
|
|
0.700 |
|
0 |
|
|
rs587777499
|
0.925 |
0.160 |
5 |
55233261 |
frameshift variant |
-/CGGGC;CGGGCCGGGC
|
delins
|
|
|
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 |
|
|
rs587777500
|
0.925 |
0.160 |
5 |
55231502 |
frameshift variant |
G/-
|
delins
|
|
|
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 |
|
|
rs587777500
|
0.925 |
0.160 |
5 |
55231502 |
frameshift variant |
G/-
|
delins
|
|
|
CILIARY DYSKINESIA, PRIMARY, 29
|
|
0.700 |
|
0 |
|
|
rs587777501
|
0.925 |
0.160 |
5 |
55231467 |
stop gained |
G/A
|
snv
|
|
|
CILIARY DYSKINESIA, PRIMARY, 29
|
|
0.700 |
|
0 |
|
|
rs587777501
|
0.925 |
0.160 |
5 |
55231467 |
stop gained |
G/A
|
snv
|
|
|
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 |
|
|
rs587777502
|
0.925 |
0.160 |
5 |
55233256 |
frameshift variant |
-/TGGGC
|
delins
|
4.9E-06;
1.3E-04;
4.9E-06;
2.0E-05
|
|
CILIARY DYSKINESIA, PRIMARY, 29
|
|
0.700 |
|
0 |
|
|
rs587777502
|
0.925 |
0.160 |
5 |
55233256 |
frameshift variant |
-/TGGGC
|
delins
|
4.9E-06;
1.3E-04;
4.9E-06;
2.0E-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 |
|
|
rs797045150
|
0.925 |
0.160 |
5 |
55231712 |
missense variant |
T/C
|
snv
|
|
|
CILIARY DYSKINESIA, PRIMARY, 29
|
|
0.700 |
|
0 |
|
|
rs797045150
|
0.925 |
0.160 |
5 |
55231712 |
missense variant |
T/C
|
snv
|
|
|
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 |
|
|
rs587777503
|
0.925 |
0.160 |
5 |
55232446 |
frameshift variant |
AG/-
|
delins
|
4.0E-06
|
7.0E-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 |
|
|
rs587777503
|
0.925 |
0.160 |
5 |
55232446 |
frameshift variant |
AG/-
|
delins
|
4.0E-06
|
7.0E-06
|
CILIARY DYSKINESIA, PRIMARY, 29
|
|
0.700 |
|
0 |
|
|
rs774393276
|
|
|
5 |
55232389 |
frameshift variant |
-/C
|
delins
|
2.4E-05
|
2.8E-05
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs775051461
|
1.000 |
|
5 |
55231790 |
missense variant |
A/G
|
snv
|
9.8E-05
|
6.3E-05
|
CILIARY DYSKINESIA, PRIMARY, 29
|
|
0.700 |
|
0 |
|
|
rs775051461
|
1.000 |
|
5 |
55231790 |
missense variant |
A/G
|
snv
|
9.8E-05
|
6.3E-05
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|