c.1160A>G(p.
Glu387Gly)
|
F
|
-
|
Turkish
|
-
|
-
|
c.472G>T(p.Glu158Term) |
F |
7 |
- |
VSD, Eisenmenger
syndrome |
- |
c.23C>A(p.Ser8*) |
M |
- |
- |
Chronic otitis media and
sinusitis, recurrent pneumonia, bronchiectasis, removed middle lobe,
complete situs inversus, impaired fertility |
ODA+IDA |
c.1199_1214dupACGATACCTGCGTGGC
(p.Gly406Argfs*89)
|
F
|
-
|
-
|
Chronic otitis media and sinusitis, recurrent pneumonia, bronchiectasis,
complete situs inversus
|
ODA+IDA
|
c.564dupG(p.Lys189Glufs*5) |
- |
- |
- |
- |
ODA+IDA |
c.2147C>T(p.
Ala716Val)
|
F
|
-
|
European
|
Developmental disorder
|
-
|
c.156C>A(p.Tyr52Term)
|
M
|
40
|
Asian
|
Recurrent bronchitis and
pneumonia, chronic
sinusitis, bronchiectasis,
situs inversus, infertility
|
ODA+IDA
|
c.26C>A(p.Ser9Term) |
|
|
|
|
|
c.727G>T(Glu243Term) |
- |
- |
Swedish |
- |
- |
c.2027_2028delCT(p.S676Term) |
- |
- |
- |
- |
- |
c.962C>A(p.Ser321Term) |
M |
- |
Greek-Cypriot |
- |
- |
c.998C>T(p.Ala333Val) |
- |
- |
Dutch |
- |
ODA+partial
IDA |
c.1901T>C(p.Phe634Ser) |
|
|
|
|
|
c.796C>T(p.Gln266Term)
|
M
|
30
|
Asian
|
Kartagener Syndrom,
producting cough, hemoptysis, naso-sinusitis, left-right laterality
defects, azoospermia
|
-
|
c.1555delG(p.Glu519fs) |
M |
- |
- |
- |
- |
c.1891G>A(p.Val631Ile) |
M |
- |
- |
Infetility |
- |
c.31delG(p.Glu11Argfs*5) |
F |
14 |
Italian |
Neonatal RDS,
bronchiectasis, sinusitis |
ODA+IDA |
c.491T>C (p.Leu164Pro) |
F |
26 |
Asian |
Scoliosis,
bronchiectasis, sinusitis, situsinversus and infertility |
ODA |
c.822del (p.Ala275Profs*10) |
F |
53 |
Asian |
Bronchiectasis, sinusitis
and infertility |
- |
c.177_178insA (p.E60Rfs*3)
Novel
|
F
|
7
|
Asian
|
Recurrent respiratory tract infection, atelectasis, bronchiectasis,
sinusitis and otitis media
|
-
|
|
M |
10/12 |
Asian |
Pneumonia, atelectasis in lingular lobe,
sinusitis, otitis media and hypertrophy of adenoids |
ODA+IDA |