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, 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 |
|
|
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, 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 |
|
|
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 |
|
|