rs756235547
|
|
|
3 |
180659582 |
splice acceptor variant |
T/C
|
snv
|
1.2E-04
|
8.4E-05
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
4 |
2011 |
2013 |
rs397515392
|
1.000 |
0.120 |
3 |
180661860 |
splice donor variant |
C/G
|
snv
|
1.6E-04
|
7.0E-05
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2011 |
2013 |
rs587778822
|
1.000 |
0.120 |
3 |
180651496 |
frameshift variant |
T/-
|
delins
|
|
1.4E-05
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2011 |
2014 |
rs1560079213
|
|
|
3 |
180616697 |
splice acceptor variant |
T/-
|
del
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2011 |
2013 |
rs201780665
|
|
|
3 |
180642072 |
stop gained |
G/A;T
|
snv
|
7.6E-05;
8.1E-06
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2013 |
2014 |
rs587778820
|
1.000 |
0.120 |
3 |
180619334 |
frameshift variant |
T/-
|
delins
|
2.6E-05
|
1.4E-05
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2011 |
2016 |
rs753580394
|
|
|
3 |
180644119 |
splice donor variant |
C/T
|
snv
|
6.8E-06
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2011 |
2013 |
rs773801386
|
1.000 |
0.120 |
3 |
180654861 |
frameshift variant |
GT/-
|
delins
|
|
4.2E-05
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
1990 |
2013 |
rs1007345781
|
|
|
3 |
180616604 |
frameshift variant |
GT/-
|
delins
|
8.7E-06
|
2.8E-05
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs577069249
|
|
|
3 |
180650140 |
intron variant |
T/C
|
snv
|
|
5.0E-04
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs1210953680
|
|
|
3 |
180652161 |
splice donor variant |
A/T
|
snv
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1275367324
|
|
|
3 |
180651409 |
frameshift variant |
C/-
|
del
|
5.9E-06
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1285431486
|
|
|
3 |
180642111 |
frameshift variant |
C/-
|
del
|
4.0E-06
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1415346246
|
|
|
3 |
180659577 |
splice acceptor variant |
AACT/-
|
delins
|
4.0E-06
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1553800956
|
|
|
3 |
180616551 |
stop gained |
C/A
|
snv
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1553803540
|
|
|
3 |
180641992 |
splice donor variant |
C/T
|
snv
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1553804100
|
|
|
3 |
180647254 |
intron variant |
T/C
|
snv
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1553804209
|
|
|
3 |
180648215 |
frameshift variant |
-/T
|
delins
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1553804220
|
|
|
3 |
180648285 |
frameshift variant |
C/-
|
del
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1553804640
|
|
|
3 |
180651533 |
splice acceptor variant |
C/-
|
delins
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1553805740
|
|
|
3 |
180659694 |
frameshift variant |
-/GT
|
delins
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1553805885
|
|
|
3 |
180660635 |
frameshift variant |
C/-
|
del
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1560086701
|
|
|
3 |
180641995 |
frameshift variant |
AT/-
|
delins
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1560090006
|
|
|
3 |
180652246 |
frameshift variant |
AGTGGCT/-
|
del
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1560092160
|
|
|
3 |
180659715 |
frameshift variant |
CT/-
|
delins
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|