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 |
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 |
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 |
|
|
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 |
|
|
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 |
|
|
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
|
|
|
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 |
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 |
|
|
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 |
|
|
rs782064437
|
0.925 |
0.200 |
11 |
77147796 |
splice acceptor variant |
A/C;G
|
snv
|
8.3E-06
|
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 |
2012 |
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 |
rs1555051384
|
0.925 |
0.200 |
11 |
77142707 |
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 |
2 |
1997 |
2009 |
rs397516330
|
0.925 |
0.200 |
11 |
77213858 |
splice acceptor variant |
A/G
|
snv
|
|
2.8E-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 |
2013 |
2014 |
rs1555072299
|
0.925 |
0.200 |
11 |
77166054 |
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 |
|
0 |
|
|
rs1555090168
|
0.925 |
0.200 |
11 |
77189342 |
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 |
|
0 |
|
|
rs1555107286
|
0.925 |
0.200 |
11 |
77208428 |
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 |
|
0 |
|
|
rs1555069238
|
1.000 |
0.200 |
11 |
77162125 |
missense variant |
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 |
|
0 |
|
|
rs1555085978
|
0.925 |
0.200 |
11 |
77183092 |
stop gained |
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 |
|
0 |
|
|
rs782539587
|
0.925 |
0.200 |
11 |
77161030 |
stop gained |
A/T
|
snv
|
1.6E-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 |
|
|
rs1555080760
|
0.925 |
0.200 |
11 |
77177600 |
frameshift variant |
AG/-
|
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 |
2012 |
2012 |
rs1555082041
|
0.925 |
0.200 |
11 |
77179039 |
splice acceptor variant |
AGGTCTAACTTTC/-
|
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 |
|
|
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 |
rs1299898646
|
0.925 |
0.200 |
11 |
77205611 |
frameshift variant |
C/-
|
delins
|
1.6E-05
|
4.2E-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 |
2006 |
2011 |