rs587777602
|
0.882 |
0.160 |
20 |
25302260 |
missense variant |
G/C
|
snv
|
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2010 |
2018 |
rs587777604
|
1.000 |
0.160 |
20 |
25317064 |
missense variant |
C/G;T
|
snv
|
1.2E-05
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2010 |
2018 |
rs772987424
|
1.000 |
0.160 |
20 |
25308486 |
stop gained |
G/A;C
|
snv
|
2.0E-05
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2010 |
2018 |
rs1555817157
|
0.742 |
0.280 |
20 |
25339320 |
frameshift variant |
TCTTCCTCAGGCG/-
|
del
|
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1303044966
|
0.882 |
0.160 |
20 |
25339294 |
stop gained |
G/A;C
|
snv
|
4.0E-06
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555810299
|
1.000 |
0.160 |
20 |
25302247 |
inframe deletion |
AATGTA/-
|
delins
|
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555813914
|
1.000 |
0.160 |
20 |
25323409 |
frameshift variant |
TC/AAA
|
delins
|
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs267606624
|
1.000 |
0.160 |
20 |
25302322 |
stop gained |
G/A
|
snv
|
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397704714
|
1.000 |
0.160 |
20 |
25307980 |
stop gained |
-/CTTAGCT
|
delins
|
4.0E-06
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587777603
|
1.000 |
0.160 |
20 |
25320264 |
stop gained |
C/T
|
snv
|
|
7.0E-06
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs776800006
|
1.000 |
0.160 |
20 |
25306909 |
stop gained |
G/A
|
snv
|
1.2E-05
|
7.0E-06
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs886039872
|
1.000 |
0.160 |
20 |
25303608 |
missense variant |
G/A
|
snv
|
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|