rs386833694
|
0.925 |
0.120 |
16 |
28482161 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
8 |
1997 |
2012 |
rs386833737
|
1.000 |
0.120 |
16 |
28486393 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs267606737
|
0.882 |
0.120 |
16 |
28486427 |
stop gained |
G/T
|
snv
|
4.0E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2009 |
2012 |
rs386833730
|
1.000 |
0.120 |
16 |
28486464 |
missense variant |
C/G
|
snv
|
4.0E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
5 |
1997 |
2012 |
rs386833731
|
1.000 |
0.120 |
16 |
28486459 |
missense variant |
C/A;G
|
snv
|
4.0E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
4 |
1997 |
2012 |
rs386833735
|
1.000 |
0.120 |
16 |
28486438 |
frameshift variant |
C/-;CC
|
delins
|
4.1E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833705
|
1.000 |
0.120 |
16 |
28489387 |
splice acceptor variant |
C/T
|
snv
|
4.2E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833723
|
1.000 |
0.120 |
16 |
28486639 |
missense variant |
C/G;T
|
snv
|
4.2E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833721
|
1.000 |
0.120 |
16 |
28486663 |
non coding transcript exon variant |
C/A;G;T
|
snv
|
4.5E-06;
1.3E-05
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs771788391
|
1.000 |
0.120 |
16 |
28482475 |
splice donor variant |
A/T
|
snv
|
8.0E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833708
|
1.000 |
0.120 |
16 |
28491759 |
start lost |
T/C;G
|
snv
|
8.0E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833706
|
1.000 |
0.120 |
16 |
28477565 |
stop gained |
G/A;T
|
snv
|
8.0E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833702
|
1.000 |
0.120 |
16 |
28477636 |
splice acceptor variant |
C/A
|
snv
|
8.0E-06
|
7.0E-06
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1997 |
2015 |
rs386833697
|
1.000 |
0.120 |
16 |
28482107 |
stop gained |
G/A
|
snv
|
8.1E-06
|
2.1E-05
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2012 |
2013 |
rs142456044
|
1.000 |
0.120 |
16 |
28477818 |
stop gained |
G/A;C
|
snv
|
1.2E-05
|
2.8E-05
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833736
|
0.925 |
0.120 |
16 |
28486401 |
frameshift variant |
-/A
|
delins
|
1.2E-05
|
7.0E-06
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833704
|
1.000 |
0.120 |
16 |
28491477 |
splice region variant |
C/T
|
snv
|
1.6E-05
|
1.4E-05
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833744
|
0.925 |
0.160 |
16 |
28482173 |
missense variant |
C/A;T
|
snv
|
2.0E-05
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
4 |
1997 |
2012 |
rs121434286
|
0.882 |
0.120 |
16 |
28482500 |
stop gained |
C/A;T
|
snv
|
2.4E-05
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.820 |
1.000 |
6 |
1997 |
2015 |
rs386833695
|
0.925 |
0.120 |
16 |
28482160 |
missense variant |
C/T
|
snv
|
2.4E-05
|
2.1E-05
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
10 |
1997 |
2013 |
rs386833726
|
1.000 |
0.120 |
16 |
28491558 |
stop gained |
C/A;T
|
snv
|
2.8E-05
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833738
|
0.925 |
0.120 |
16 |
28484003 |
splice region variant |
T/G
|
snv
|
1.8E-04
|
2.1E-05
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|