rs1555067667
|
0.882 |
0.200 |
11 |
77160272 |
missense variant |
C/A
|
snv
|
|
|
Usher Syndrome, Type I
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
20 |
1995 |
2015 |
rs111033286
|
1.000 |
0.200 |
11 |
77162146 |
missense variant |
C/T
|
snv
|
|
|
Usher Syndrome, Type I
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
15 |
1995 |
2015 |
rs121965080
|
0.925 |
0.200 |
11 |
77156903 |
missense variant |
C/T
|
snv
|
|
2.1E-05
|
Usher Syndrome, Type I
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
15 |
1995 |
2015 |
rs1472566324
|
0.925 |
0.200 |
11 |
77156676 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Usher Syndrome, Type I
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
6 |
2006 |
2016 |
rs1057517774
|
0.925 |
0.200 |
11 |
77162845 |
splice region variant |
C/G
|
snv
|
|
7.0E-06
|
Usher Syndrome, Type I
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
4 |
1996 |
2011 |
rs1057517774
|
0.925 |
0.200 |
11 |
77162845 |
splice region variant |
C/G
|
snv
|
|
7.0E-06
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
4 |
1996 |
2011 |
rs1453053718
|
0.925 |
0.200 |
11 |
77207402 |
splice region variant |
G/A
|
snv
|
|
7.0E-06
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
4 |
2006 |
2014 |
rs1453053718
|
0.925 |
0.200 |
11 |
77207402 |
splice region variant |
G/A
|
snv
|
|
7.0E-06
|
Usher Syndrome, Type I
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
4 |
2006 |
2014 |
rs1472566324
|
0.925 |
0.200 |
11 |
77156676 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
4 |
2006 |
2016 |
rs1555067667
|
0.882 |
0.200 |
11 |
77160272 |
missense variant |
C/A
|
snv
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
4 |
1997 |
2012 |
rs111033198
|
0.925 |
0.200 |
11 |
77211170 |
stop gained |
C/T
|
snv
|
|
7.0E-06
|
Usher Syndrome, Type I
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2009 |
2012 |
rs111033415
|
0.925 |
0.200 |
11 |
77162118 |
splice acceptor variant |
A/G
|
snv
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2005 |
2016 |
rs111033415
|
0.925 |
0.200 |
11 |
77162118 |
splice acceptor variant |
A/G
|
snv
|
|
|
Usher Syndrome, Type I
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2005 |
2016 |
rs121965082
|
0.925 |
0.200 |
11 |
77166162 |
missense variant |
G/A
|
snv
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
3 |
1997 |
2017 |
rs1555090171
|
0.925 |
0.200 |
11 |
77189343 |
splice acceptor variant |
G/C
|
snv
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2005 |
2013 |
rs1555090171
|
0.925 |
0.200 |
11 |
77189343 |
splice acceptor variant |
G/C
|
snv
|
|
|
Usher Syndrome, Type I
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2005 |
2013 |
rs1555096223
|
0.925 |
0.200 |
11 |
77194496 |
frameshift variant |
C/-
|
delins
|
|
|
Usher Syndrome, Type I
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2006 |
2016 |
rs1555096223
|
0.925 |
0.200 |
11 |
77194496 |
frameshift variant |
C/-
|
delins
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2006 |
2016 |
rs397516281
|
0.925 |
0.200 |
11 |
77160179 |
missense variant |
T/C
|
snv
|
|
7.0E-06
|
Usher Syndrome, Type I
|
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 |
2016 |
rs397516281
|
0.925 |
0.200 |
11 |
77160179 |
missense variant |
T/C
|
snv
|
|
7.0E-06
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2007 |
2016 |
rs397516295
|
0.925 |
0.200 |
11 |
77179044 |
splice acceptor variant |
G/A;T
|
snv
|
|
|
Usher Syndrome, Type I
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2011 |
2011 |
rs397516326
|
0.925 |
0.200 |
11 |
77208776 |
frameshift variant |
G/-
|
delins
|
|
3.5E-05
|
Usher Syndrome, Type I
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2011 |
2016 |
rs111033180
|
0.882 |
0.200 |
11 |
77172850 |
stop gained |
C/A;T
|
snv
|
|
1.4E-05
|
Usher Syndrome, Type I
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
1998 |
2009 |
rs111033182
|
0.925 |
0.200 |
11 |
77202357 |
stop gained |
C/T
|
snv
|
|
7.0E-06
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2006 |
2012 |
rs111033182
|
0.925 |
0.200 |
11 |
77202357 |
stop gained |
C/T
|
snv
|
|
7.0E-06
|
Usher Syndrome, Type I
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2006 |
2012 |