rs1057516335
|
1.000 |
0.120 |
16 |
28484112 |
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
rs386833712
|
1.000 |
0.120 |
16 |
28488651 |
frameshift variant |
-/C
|
delins
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs1555469159
|
1.000 |
0.120 |
16 |
28489316 |
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 |
|
|
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 |
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 |
|
|
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 |
rs386833714
|
1.000 |
0.120 |
16 |
28487734 |
missense variant |
A/G
|
snv
|
|
|
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 |
rs386833727
|
1.000 |
0.120 |
16 |
28486602 |
missense variant |
A/G
|
snv
|
|
|
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 |
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 |
|
|
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 |
|
|
rs1057517215
|
1.000 |
0.120 |
16 |
28488603 |
frameshift variant |
AG/-
|
delins
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555468634
|
0.925 |
0.120 |
16 |
28485965 |
splice donor variant |
ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/-
|
del
|
|
|
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 |
rs1555468374
|
1.000 |
0.120 |
16 |
28484005 |
splice donor variant |
C/-
|
delins
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555469452
|
1.000 |
0.120 |
16 |
28491481 |
splice donor variant |
C/-
|
delins
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
rs1057517287
|
1.000 |
0.120 |
16 |
28486346 |
splice donor variant |
C/A
|
snv
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |