rs1224819887
|
0.925 |
0.200 |
11 |
77147888 |
frameshift variant |
-/A
|
delins
|
|
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 |
1 |
2016 |
2016 |
rs1224819887
|
0.925 |
0.200 |
11 |
77147888 |
frameshift variant |
-/A
|
delins
|
|
7.0E-06
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1555095933
|
0.925 |
0.200 |
11 |
77194384 |
frameshift variant |
-/A
|
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 |
1 |
2017 |
2017 |
rs1555095933
|
0.925 |
0.200 |
11 |
77194384 |
frameshift variant |
-/A
|
delins
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs782077721
|
1.000 |
0.200 |
11 |
77162914 |
frameshift variant |
-/C
|
delins
|
|
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 |
|
0 |
|
|
rs1555051390
|
1.000 |
0.200 |
11 |
77142707 |
coding sequence variant |
-/G
|
delins
|
|
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555100603
|
0.925 |
0.200 |
11 |
77199792 |
frameshift variant |
-/G
|
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 |
|
0 |
|
|
rs1555100603
|
0.925 |
0.200 |
11 |
77199792 |
frameshift variant |
-/G
|
delins
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555105135
|
0.925 |
0.200 |
11 |
77205468 |
frameshift variant |
-/G
|
delins
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555105135
|
0.925 |
0.200 |
11 |
77205468 |
frameshift variant |
-/G
|
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 |
|
0 |
|
|
rs1555107555
|
0.925 |
0.200 |
11 |
77208706 |
frameshift variant |
-/TCAC
|
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 |
|
0 |
|
|
rs1555107555
|
0.925 |
0.200 |
11 |
77208706 |
frameshift variant |
-/TCAC
|
delins
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1199012623
|
0.882 |
0.200 |
11 |
77199804 |
frameshift variant |
A/-
|
del
|
8.3E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2008 |
2012 |
rs1199012623
|
0.882 |
0.200 |
11 |
77199804 |
frameshift variant |
A/-
|
del
|
8.3E-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 |
2008 |
2012 |
rs111033347
|
0.882 |
0.200 |
11 |
77190709 |
frameshift variant |
A/-
|
delins
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs111033347
|
0.882 |
0.200 |
11 |
77190709 |
frameshift variant |
A/-
|
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 |
1 |
2007 |
2007 |
rs111033347
|
0.882 |
0.200 |
11 |
77190709 |
frameshift variant |
A/-
|
delins
|
|
|
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 |
2007 |
2007 |
rs1199012623
|
0.882 |
0.200 |
11 |
77199804 |
frameshift variant |
A/-
|
del
|
8.3E-06
|
|
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 |
2008 |
2008 |
rs1555078942
|
1.000 |
0.200 |
11 |
77174797 |
frameshift variant |
A/-
|
del
|
|
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555105202
|
0.925 |
0.200 |
11 |
77205523 |
frameshift variant |
A/-
|
delins
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555105202
|
0.925 |
0.200 |
11 |
77205523 |
frameshift variant |
A/-
|
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 |
|
0 |
|
|
rs1555106609
|
0.925 |
0.200 |
11 |
77207343 |
frameshift variant |
A/-
|
del
|
|
|
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 |
|
0 |
|
|
rs1555106609
|
0.925 |
0.200 |
11 |
77207343 |
frameshift variant |
A/-
|
del
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555109612
|
0.925 |
0.200 |
11 |
77211819 |
splice acceptor variant |
A/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 |
|
0 |
|
|
rs1555109612
|
0.925 |
0.200 |
11 |
77211819 |
splice acceptor variant |
A/C
|
snv
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|