rs1284826852
|
0.925 |
0.200 |
1 |
215993152 |
frameshift variant |
-/A
|
delins
|
|
2.1E-05
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.700 |
|
0 |
|
|
rs1284826852
|
0.925 |
0.200 |
1 |
215993152 |
frameshift variant |
-/A
|
delins
|
|
2.1E-05
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs786205115
|
1.000 |
0.200 |
1 |
216217414 |
frameshift variant |
-/A
|
delins
|
|
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1553281890
|
0.925 |
0.200 |
1 |
215965331 |
frameshift variant |
-/AT
|
delins
|
|
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1553281890
|
0.925 |
0.200 |
1 |
215965331 |
frameshift variant |
-/AT
|
delins
|
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.700 |
|
0 |
|
|
rs587776538
|
0.925 |
0.200 |
1 |
216422096 |
frameshift variant |
-/ATCG;TACG
|
delins
|
|
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs587776538
|
0.925 |
0.200 |
1 |
216422096 |
frameshift variant |
-/ATCG;TACG
|
delins
|
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.700 |
|
0 |
|
|
rs1553313793
|
0.925 |
0.200 |
1 |
216199757 |
frameshift variant |
-/C
|
delins
|
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1553313793
|
0.925 |
0.200 |
1 |
216199757 |
frameshift variant |
-/C
|
delins
|
|
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1553256576
|
0.925 |
0.200 |
1 |
215728280 |
frameshift variant |
-/C
|
delins
|
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.700 |
|
0 |
|
|
rs1553256576
|
0.925 |
0.200 |
1 |
215728280 |
frameshift variant |
-/C
|
delins
|
|
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1553256587
|
0.925 |
0.200 |
1 |
215728361 |
frameshift variant |
-/C
|
delins
|
|
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1553256587
|
0.925 |
0.200 |
1 |
215728361 |
frameshift variant |
-/C
|
delins
|
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.700 |
|
0 |
|
|
rs1553285970
|
0.925 |
0.200 |
1 |
215993149 |
frameshift variant |
-/C
|
delins
|
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.700 |
|
0 |
|
|
rs1553285970
|
0.925 |
0.200 |
1 |
215993149 |
frameshift variant |
-/C
|
delins
|
|
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs774573692
|
0.925 |
0.200 |
1 |
215888469 |
frameshift variant |
-/C
|
delins
|
|
7.0E-06
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.700 |
|
0 |
|
|
rs774573692
|
0.925 |
0.200 |
1 |
215888469 |
frameshift variant |
-/C
|
delins
|
|
7.0E-06
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs886041502
|
0.925 |
0.200 |
1 |
215888698 |
frameshift variant |
-/G
|
delins
|
|
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2016 |
2016 |
rs886041502
|
0.925 |
0.200 |
1 |
215888698 |
frameshift variant |
-/G
|
delins
|
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.700 |
1.000 |
2 |
2016 |
2016 |
rs1553294144
|
0.925 |
0.200 |
1 |
216046577 |
frameshift variant |
-/G
|
delins
|
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.700 |
|
0 |
|
|
rs1553294144
|
0.925 |
0.200 |
1 |
216046577 |
frameshift variant |
-/G
|
delins
|
|
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs397518043
|
0.851 |
0.200 |
1 |
216325524 |
frameshift variant |
-/GCTG
|
delins
|
4.0E-06;
5.6E-05
|
5.6E-05
|
Retinitis Pigmentosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
1.000 |
2 |
2000 |
2019 |
rs397518043
|
0.851 |
0.200 |
1 |
216325524 |
frameshift variant |
-/GCTG
|
delins
|
4.0E-06;
5.6E-05
|
5.6E-05
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs397518043
|
0.851 |
0.200 |
1 |
216325524 |
frameshift variant |
-/GCTG
|
delins
|
4.0E-06;
5.6E-05
|
5.6E-05
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs397518043
|
0.851 |
0.200 |
1 |
216325524 |
frameshift variant |
-/GCTG
|
delins
|
4.0E-06;
5.6E-05
|
5.6E-05
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.700 |
1.000 |
1 |
2014 |
2014 |