rs111033258
|
0.851 |
0.200 |
3 |
150972565 |
missense variant |
A/C
|
snv
|
2.7E-04
|
1.5E-04
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.820 |
1.000 |
14 |
2001 |
2016 |
rs121908143
|
0.827 |
0.200 |
3 |
150972591 |
missense variant |
A/C;G
|
snv
|
8.0E-05;
4.0E-06
|
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.810 |
1.000 |
6 |
2001 |
2012 |
rs121908141
|
1.000 |
0.200 |
3 |
150941656 |
missense variant |
A/G;T
|
snv
|
8.0E-06;
2.8E-05
|
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
7 |
2001 |
2012 |
rs121908142
|
1.000 |
0.200 |
3 |
150928186 |
missense variant |
A/G
|
snv
|
|
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
7 |
2001 |
2012 |
rs111033267
|
0.851 |
0.200 |
3 |
150972520 |
stop gained |
G/A;T
|
snv
|
1.2E-05;
1.2E-05
|
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.710 |
1.000 |
4 |
2002 |
2014 |
rs786204428
|
1.000 |
0.200 |
3 |
150972557 |
frameshift variant |
CCTG/ATTGGACA
|
delins
|
|
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
5 |
2002 |
2012 |
rs374963432
|
1.000 |
0.200 |
3 |
150941647 |
stop gained |
G/T
|
snv
|
1.6E-05
|
1.7E-04
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2007 |
2012 |
rs121908140
|
1.000 |
0.200 |
3 |
150928107 |
stop gained |
A/C;G;T
|
snv
|
6.8E-04;
4.0E-06
|
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2001 |
2009 |
rs373208120
|
1.000 |
0.200 |
3 |
150928016 |
stop gained |
G/A
|
snv
|
2.8E-05
|
1.4E-05
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2012 |
2012 |
rs397517932
|
1.000 |
0.200 |
3 |
150941710 |
frameshift variant |
GACAT/-
|
delins
|
8.0E-06
|
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs746523071
|
1.000 |
0.200 |
3 |
150928132 |
frameshift variant |
-/T
|
delins
|
1.2E-05;
4.0E-06
|
7.0E-06
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs1057516687
|
1.000 |
0.200 |
3 |
150941579 |
splice donor variant |
-/A
|
delins
|
4.0E-06
|
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057517224
|
1.000 |
0.200 |
3 |
150972696 |
stop gained |
G/A;T
|
snv
|
4.0E-06
|
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1085307049
|
1.000 |
0.200 |
3 |
150928174 |
inframe deletion |
ATA/-
|
delins
|
|
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1553772595
|
1.000 |
0.200 |
3 |
150941643 |
frameshift variant |
A/-
|
delins
|
|
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1553776036
|
1.000 |
0.200 |
3 |
150972499 |
frameshift variant |
CCTCTCCGTGGAAAAGCCCGTAC/-
|
delins
|
|
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1553776052
|
1.000 |
0.200 |
3 |
150972525 |
stop gained |
G/A
|
snv
|
|
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1553776061
|
1.000 |
0.200 |
3 |
150972555 |
frameshift variant |
GCCC/-
|
del
|
|
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1553776112
|
1.000 |
0.200 |
3 |
150972669 |
stop gained |
C/A;T
|
snv
|
|
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1553776132
|
1.000 |
0.200 |
3 |
150972706 |
start lost |
C/T
|
snv
|
|
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1553776135
|
1.000 |
0.200 |
3 |
150972707 |
start lost |
A/G
|
snv
|
|
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1559982739
|
1.000 |
0.200 |
3 |
150941692 |
missense variant |
A/G
|
snv
|
|
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs376155416
|
1.000 |
0.200 |
3 |
150928094 |
stop gained |
G/A;T
|
snv
|
4.0E-06
|
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs775098953
|
0.925 |
0.200 |
3 |
150928174 |
missense variant |
A/C
|
snv
|
4.0E-06
|
|
Usher Syndrome, Type III
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |