rs1064797153
|
0.925 |
0.200 |
11 |
17523239 |
frameshift variant |
CTGCGGCT/-
|
del
|
|
|
Deafness, Autosomal Recessive 18
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1064797153
|
0.925 |
0.200 |
11 |
17523239 |
frameshift variant |
CTGCGGCT/-
|
del
|
|
|
USHER SYNDROME, TYPE IC
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1187887456
|
0.925 |
0.200 |
11 |
17523479 |
splice acceptor variant |
C/A
|
snv
|
|
3.5E-05
|
Deafness, Autosomal Recessive 18
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1187887456
|
0.925 |
0.200 |
11 |
17523479 |
splice acceptor variant |
C/A
|
snv
|
|
3.5E-05
|
USHER SYNDROME, TYPE IC
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1207247951
|
0.882 |
0.200 |
11 |
17517465 |
frameshift variant |
C/-
|
delins
|
|
|
Deafness, Autosomal Recessive 18
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs1207247951
|
0.882 |
0.200 |
11 |
17517465 |
frameshift variant |
C/-
|
delins
|
|
|
USHER SYNDROME, TYPE IC
|
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 |
rs1207247951
|
0.882 |
0.200 |
11 |
17517465 |
frameshift variant |
C/-
|
delins
|
|
|
Retinitis Pigmentosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
rs121908370
|
0.882 |
0.200 |
11 |
17533268 |
stop gained |
G/A;C
|
snv
|
1.2E-05;
4.0E-05
|
|
Deafness, Autosomal Recessive 18
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2001 |
2015 |
rs121908370
|
0.882 |
0.200 |
11 |
17533268 |
stop gained |
G/A;C
|
snv
|
1.2E-05;
4.0E-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 |
|
|
rs121908370
|
0.882 |
0.200 |
11 |
17533268 |
stop gained |
G/A;C
|
snv
|
1.2E-05;
4.0E-05
|
|
USHER SYNDROME, TYPE IC
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1223763703
|
0.925 |
0.200 |
11 |
17526349 |
stop gained |
G/T
|
snv
|
|
7.0E-06
|
USHER SYNDROME, TYPE IC
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1223763703
|
0.925 |
0.200 |
11 |
17526349 |
stop gained |
G/T
|
snv
|
|
7.0E-06
|
Deafness, Autosomal Recessive 18
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs12275068
|
1.000 |
0.040 |
11 |
17525309 |
intron variant |
G/A
|
snv
|
|
0.10
|
Leukemia, Myelocytic, Acute
|
Neoplasms
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1283092935
|
0.925 |
0.200 |
11 |
17526752 |
splice donor variant |
C/G;T
|
snv
|
|
|
Deafness, Autosomal Recessive 18
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1283092935
|
0.925 |
0.200 |
11 |
17526752 |
splice donor variant |
C/G;T
|
snv
|
|
|
USHER SYNDROME, TYPE IC
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1287021691
|
0.925 |
0.200 |
11 |
17533254 |
splice donor variant |
C/T
|
snv
|
|
7.0E-06
|
Deafness, Autosomal Recessive 18
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1287021691
|
0.925 |
0.200 |
11 |
17533254 |
splice donor variant |
C/T
|
snv
|
|
7.0E-06
|
USHER SYNDROME, TYPE IC
|
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 |
rs1298596518
|
0.925 |
0.200 |
11 |
17526345 |
splice donor variant |
A/C
|
snv
|
|
|
USHER SYNDROME, TYPE IC
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2002 |
2015 |
rs1298596518
|
0.925 |
0.200 |
11 |
17526345 |
splice donor variant |
A/C
|
snv
|
|
|
Deafness, Autosomal Recessive 18
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2002 |
2015 |
rs1355262412
|
0.882 |
0.200 |
11 |
17524446 |
splice donor variant |
CCTCCAATCCCACCTCA/-
|
delins
|
|
7.0E-06
|
USHER SYNDROME, TYPE IC
|
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 |
rs1355262412
|
0.882 |
0.200 |
11 |
17524446 |
splice donor variant |
CCTCCAATCCCACCTCA/-
|
delins
|
|
7.0E-06
|
Deafness, Autosomal Recessive 18
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1355262412
|
0.882 |
0.200 |
11 |
17524446 |
splice donor variant |
CCTCCAATCCCACCTCA/-
|
delins
|
|
7.0E-06
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1358056232
|
0.925 |
0.200 |
11 |
17501982 |
splice acceptor variant |
T/C
|
snv
|
4.0E-06
|
|
USHER SYNDROME, TYPE IC
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1358056232
|
0.925 |
0.200 |
11 |
17501982 |
splice acceptor variant |
T/C
|
snv
|
4.0E-06
|
|
Deafness, Autosomal Recessive 18
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs138138689
|
0.925 |
0.200 |
11 |
17527222 |
splice donor variant |
C/A;G;T
|
snv
|
2.0E-05;
4.0E-06;
2.0E-05
|
|
USHER SYNDROME, TYPE IC
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
7 |
2001 |
2015 |