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 |
|
|
rs386833709
|
0.925 |
0.120 |
16 |
28489298 |
stop gained |
G/A
|
snv
|
|
1.4E-05
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833710
|
1.000 |
0.120 |
16 |
28489288 |
splice donor variant |
A/C
|
snv
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833711
|
1.000 |
0.120 |
16 |
28489285 |
splice region 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 |
|
|
rs386833713
|
1.000 |
0.120 |
16 |
28488620 |
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 |
|
|
rs386833722
|
1.000 |
0.120 |
16 |
28486651 |
splice acceptor variant |
C/G;T
|
snv
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833724
|
1.000 |
0.120 |
16 |
28486629 |
stop gained |
G/A;C
|
snv
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833725
|
1.000 |
0.120 |
16 |
28486626 |
stop gained |
G/C
|
snv
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833732
|
0.925 |
0.120 |
16 |
28486455 |
frameshift variant |
C/-;CC
|
delins
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833733
|
1.000 |
0.120 |
16 |
28486449 |
missense 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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
rs386833720
|
0.925 |
0.120 |
16 |
28487492 |
frameshift variant |
C/-
|
delins
|
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 |
1.000 |
1 |
1997 |
1997 |
rs386833719
|
1.000 |
0.120 |
16 |
28487516 |
missense variant |
A/C;G
|
snv
|
4.0E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
4 |
1997 |
2012 |
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 |
rs777625354
|
1.000 |
0.120 |
16 |
28491758 |
start lost |
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 |
|
0 |
|
|
rs386833700
|
1.000 |
0.120 |
16 |
28491502 |
stop gained |
C/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 |
|
0 |
|
|
rs386833717
|
0.925 |
0.160 |
16 |
28487537 |
splice acceptor variant |
G/-;GGG
|
delins
|
4.0E-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 |
|
|
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 |
rs587779397
|
1.000 |
0.120 |
16 |
28487664 |
frameshift variant |
-/A
|
ins
|
4.0E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833715
|
1.000 |
0.120 |
16 |
28487665 |
frameshift variant |
-/A
|
delins
|
4.0E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833716
|
1.000 |
0.120 |
16 |
28487662 |
missense variant |
C/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 |
|
0 |
|
|