rs1175443221
|
|
|
7 |
21862024 |
splice donor variant |
G/A
|
snv
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2008 |
2012 |
rs1554281038
|
|
|
7 |
21787584 |
splice donor variant |
G/A
|
snv
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2008 |
2012 |
rs368260932
|
1.000 |
0.160 |
7 |
21749702 |
stop gained |
C/T
|
snv
|
4.4E-05
|
7.7E-05
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2012 |
2015 |
rs886039340
|
|
|
7 |
21687528 |
splice donor variant |
G/C
|
snv
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2008 |
2012 |
rs200693106
|
|
|
7 |
21702773 |
stop gained |
C/A;T
|
snv
|
3.6E-05
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2012 |
2015 |
rs201943194
|
0.683 |
0.480 |
7 |
21710596 |
stop gained |
C/T
|
snv
|
8.5E-05
|
8.4E-05
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs532007878
|
|
|
7 |
21616294 |
splice donor variant |
C/A;T
|
snv
|
1.3E-04
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs72657316
|
|
|
7 |
21619178 |
stop gained |
C/T
|
snv
|
2.8E-05
|
4.2E-05
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs72657321
|
|
|
7 |
21620016 |
stop gained |
C/T
|
snv
|
1.2E-05
|
2.8E-05
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs72657393
|
|
|
7 |
21808041 |
stop gained |
C/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 |
2012 |
2012 |
rs757784023
|
|
|
7 |
21900000 |
stop gained |
C/A;T
|
snv
|
8.0E-06
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1060503041
|
|
|
7 |
21748743 |
splice donor variant |
G/A
|
snv
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1060503063
|
|
|
7 |
21842641 |
stop gained |
C/T
|
snv
|
|
1.4E-05
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1060503064
|
|
|
7 |
21854418 |
missense variant |
T/C
|
snv
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1164659091
|
|
|
7 |
21681585 |
stop gained |
G/T
|
snv
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1178187217
|
0.683 |
0.480 |
7 |
21600085 |
missense variant |
G/A;T
|
snv
|
4.3E-06
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1212535211
|
|
|
7 |
21901191 |
frameshift variant |
CGAAGAG/-
|
delins
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs121908854
|
1.000 |
|
7 |
21748602 |
stop gained |
C/A;G;T
|
snv
|
1.2E-03;
4.7E-06
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs121908855
|
1.000 |
0.160 |
7 |
21880869 |
stop gained |
C/G
|
snv
|
6.1E-05
|
2.8E-05
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1261703349
|
|
|
7 |
21901024 |
stop gained |
C/G;T
|
snv
|
4.1E-06
|
7.0E-06
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1275718084
|
|
|
7 |
21702794 |
stop gained |
G/A;T
|
snv
|
|
7.0E-06
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1286036654
|
|
|
7 |
21635937 |
stop gained |
C/T
|
snv
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1554269295
|
|
|
7 |
21687485 |
frameshift variant |
TGAAAATGATTCATGATGCCATCAGAAACAGGAAGAAG/-
|
delins
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1554282583
|
|
|
7 |
21801158 |
stop gained |
A/T
|
snv
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1554291973
|
|
|
7 |
21880700 |
splice acceptor variant |
A/G
|
snv
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|