rs121908965
|
1.000 |
0.120 |
17 |
18145935 |
missense variant |
A/G;T
|
snv
|
1.2E-05
|
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
3 |
1998 |
2014 |
rs121908966
|
1.000 |
0.120 |
17 |
18145929 |
missense variant |
A/T
|
snv
|
|
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
3 |
1998 |
2014 |
rs121908969
|
1.000 |
0.120 |
17 |
18154190 |
missense variant |
G/T
|
snv
|
4.0E-06
|
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
3 |
1998 |
2014 |
rs769260536
|
1.000 |
0.120 |
17 |
18119934 |
frameshift variant |
C/-
|
delins
|
9.6E-05
|
1.0E-04
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2013 |
2014 |
rs117071200
|
1.000 |
0.120 |
17 |
18143728 |
missense variant |
G/A;T
|
snv
|
1.6E-04
|
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2013 |
2015 |
rs184435771
|
1.000 |
0.120 |
17 |
18154714 |
missense variant |
G/A
|
snv
|
1.9E-04
|
1.1E-04
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2011 |
2013 |
rs749136456
|
1.000 |
0.120 |
17 |
18131523 |
missense variant |
G/A;C
|
snv
|
3.6E-05;
1.2E-05
|
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2010 |
2016 |
rs1567620939
|
1.000 |
0.120 |
17 |
18119970 |
frameshift variant |
-/GCCATCT
|
delins
|
|
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs375290498
|
1.000 |
0.120 |
17 |
18143580 |
stop gained |
G/A;T
|
snv
|
2.0E-03
|
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs377385081
|
1.000 |
0.120 |
17 |
18145938 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs773648511
|
1.000 |
0.120 |
17 |
18119063 |
missense variant |
C/T
|
snv
|
4.1E-06
|
7.0E-06
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs794729637
|
1.000 |
0.120 |
17 |
18122105 |
frameshift variant |
-/G
|
delins
|
|
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs1057519601
|
0.925 |
0.120 |
17 |
18171764 |
frameshift variant |
G/CCAGGCCCGTGCAGCTC
|
delins
|
|
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057519603
|
0.925 |
0.120 |
17 |
18126856 |
missense variant |
T/C
|
snv
|
|
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057519604
|
0.925 |
0.120 |
17 |
18148937 |
frameshift variant |
G/-
|
delins
|
|
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057519606
|
0.925 |
0.120 |
17 |
18159349 |
splice donor variant |
T/C
|
snv
|
|
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057519607
|
0.925 |
0.120 |
17 |
18178843 |
frameshift variant |
-/C
|
delins
|
|
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1060499798
|
1.000 |
0.120 |
17 |
18132486 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1209665716
|
1.000 |
0.120 |
17 |
18135798 |
stop gained |
C/T
|
snv
|
4.0E-06
|
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs121908967
|
1.000 |
0.120 |
17 |
18151859 |
stop gained |
A/T
|
snv
|
|
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs121908968
|
1.000 |
0.120 |
17 |
18124558 |
stop gained |
C/T
|
snv
|
|
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs121908971
|
1.000 |
0.120 |
17 |
18122113 |
stop gained |
G/A;T
|
snv
|
|
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs121908972
|
1.000 |
0.120 |
17 |
18141104 |
missense variant |
G/T
|
snv
|
|
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1221876133
|
1.000 |
0.120 |
17 |
18153812 |
frameshift variant |
-/A
|
delins
|
8.0E-06
|
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1229200252
|
1.000 |
0.120 |
17 |
18119405 |
missense variant |
C/A;T
|
snv
|
|
|
Deafness, Autosomal Recessive 3
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|