rs1060499716
|
1.000 |
0.200 |
11 |
77157397 |
splice region variant |
G/A
|
snv
|
9.3E-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 |
|
0 |
|
|
rs1060499800
|
0.925 |
0.200 |
11 |
77179069 |
frameshift variant |
C/-
|
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 |
|
|
rs1060499801
|
0.925 |
0.200 |
11 |
77211296 |
stop gained |
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 |
|
0 |
|
|
rs111033290
|
0.925 |
0.200 |
11 |
77175465 |
splice donor variant |
G/A
|
snv
|
2.0E-05
|
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 |
|
|
rs1188637368
|
0.925 |
0.200 |
11 |
77201488 |
frameshift variant |
C/-
|
delins
|
8.0E-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 |
|
0 |
|
|
rs1191025888
|
1.000 |
0.200 |
11 |
77213007 |
missense variant |
G/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
|
0.700 |
|
0 |
|
|
rs1192104600
|
0.925 |
0.200 |
11 |
77202426 |
splice donor variant |
T/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 |
|
|
rs1253943370
|
0.925 |
0.200 |
11 |
77189416 |
stop gained |
G/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
|
0.700 |
|
0 |
|
|
rs1296612982
|
0.925 |
0.200 |
11 |
77181522 |
missense variant |
T/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 |
|
|
rs1343207038
|
0.925 |
0.200 |
11 |
77172886 |
splice donor variant |
G/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 |
|
0 |
|
|
rs1480697910
|
0.925 |
0.200 |
11 |
77192233 |
frameshift variant |
CAGG/-
|
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 |
|
0 |
|
|
rs1555051567
|
0.925 |
0.200 |
11 |
77142805 |
splice donor variant |
GGATGATGAAGACAATGTGAGT/-
|
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 |
|
|
rs1555061466
|
0.925 |
0.200 |
11 |
77155934 |
frameshift variant |
G/-
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
rs1555090885
|
0.925 |
0.200 |
11 |
77190019 |
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 |
|
0 |
|
|
rs1555091636
|
0.925 |
0.200 |
11 |
77190761 |
frameshift variant |
TGCTGACG/-
|
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 |
|
|
rs1555092993
|
0.925 |
0.200 |
11 |
77192144 |
frameshift variant |
G/CC
|
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 |
|
|
rs1555093028
|
0.925 |
0.200 |
11 |
77192150 |
frameshift variant |
T/-
|
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 |
|
|
rs1555100200
|
0.925 |
0.200 |
11 |
77199541 |
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 |
|
0 |
|
|
rs1555100273
|
0.925 |
0.200 |
11 |
77199608 |
frameshift variant |
C/-
|
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 |
|
|
rs1555100315
|
0.925 |
0.200 |
11 |
77199625 |
frameshift variant |
CT/-
|
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 |
|
|