rs386833966
|
0.925 |
0.120 |
13 |
77000824 |
frameshift variant |
T/-
|
delins
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
1998 |
2013 |
rs386833969
|
0.925 |
0.120 |
13 |
77000918 |
frameshift variant |
AT/-
|
delins
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2002 |
2013 |
rs386833967
|
0.925 |
0.120 |
13 |
77000845 |
frameshift variant |
AACA/-
|
delins
|
|
2.8E-05
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2008 |
2012 |
rs786204644
|
0.925 |
0.120 |
13 |
77000667 |
frameshift variant |
AT/-
|
delins
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1998 |
2012 |
rs386833979
|
0.925 |
0.120 |
13 |
76996083 |
frameshift variant |
-/C
|
delins
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs1555273604
|
1.000 |
0.120 |
13 |
76992207 |
frameshift variant |
-/ATCCGGGCTGG
|
delins
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555273881
|
1.000 |
0.120 |
13 |
76995075 |
frameshift variant |
C/-
|
delins
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833975
|
0.925 |
0.120 |
13 |
76995990 |
missense variant |
A/G
|
snv
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs794729218
|
1.000 |
0.120 |
13 |
76995933 |
frameshift variant |
G/-
|
del
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs28940280
|
0.925 |
0.120 |
13 |
77000580 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894386
|
0.925 |
0.120 |
13 |
76995077 |
missense variant |
G/A;C
|
snv
|
8.0E-06
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833980
|
0.925 |
0.120 |
13 |
76996086 |
stop gained |
G/A
|
snv
|
1.6E-05
|
3.5E-05
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2009 |
2015 |
rs546989392
|
0.925 |
0.120 |
13 |
76996010 |
stop gained |
C/T
|
snv
|
2.0E-05
|
7.7E-05
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs104894385
|
0.925 |
0.120 |
13 |
76992176 |
stop gained |
G/A;T
|
snv
|
2.7E-05;
3.1E-05
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|