rs386833707
|
1.000 |
0.120 |
16 |
28477561 |
frameshift variant |
C/-
|
delins
|
|
|
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 |
|
|
rs386833703
|
1.000 |
0.120 |
16 |
28477586 |
missense variant |
T/C
|
snv
|
4.0E-06
|
7.0E-06
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
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 |
rs386833701
|
1.000 |
0.120 |
16 |
28477739 |
stop gained |
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
|
0.700 |
1.000 |
2 |
2004 |
2012 |
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 |
|
|
rs1555467473
|
1.000 |
0.120 |
16 |
28477866 |
frameshift variant |
-/A
|
delins
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516677
|
0.925 |
0.120 |
16 |
28477875 |
stop gained |
G/T
|
snv
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833698
|
0.925 |
0.120 |
16 |
28482102 |
splice region variant |
T/G
|
snv
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833699
|
1.000 |
0.120 |
16 |
28482105 |
missense variant |
C/G
|
snv
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
rs386833696
|
1.000 |
0.120 |
16 |
28482113 |
frameshift variant |
G/-
|
delins
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
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 |
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 |
rs386833743
|
1.000 |
0.120 |
16 |
28482182 |
stop gained |
G/A
|
snv
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833742
|
1.000 |
0.120 |
16 |
28482199 |
splice acceptor variant |
C/A;T
|
snv
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1418997146
|
1.000 |
0.120 |
16 |
28482200 |
splice acceptor variant |
T/G
|
snv
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833741
|
1.000 |
0.120 |
16 |
28482309 |
splice donor variant |
CCTCGCTCCTCTTACCAGCGGTATTGC/-
|
delins
|
|
2.1E-05
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516267
|
1.000 |
0.120 |
16 |
28482326 |
splice donor variant |
C/T
|
snv
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833740
|
0.925 |
0.120 |
16 |
28482344 |
frameshift variant |
-/T
|
delins
|
3.2E-05;
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 |
1997 |
2013 |
rs386833739
|
1.000 |
0.120 |
16 |
28482472 |
splice region variant |
C/T
|
snv
|
|
|
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 |
|
|
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 |
rs1057517350
|
1.000 |
0.120 |
16 |
28482673 |
splice acceptor variant |
C/T
|
snv
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|