|
rs1057516335
|
|
1.000 |
0.120 |
16 |
28484112 |
frameshift variant
|
-/A
|
delins
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
|
0 |
|
|
|
rs1555467473
|
|
1.000 |
0.120 |
16 |
28477866 |
frameshift variant
|
-/A
|
delins
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
|
0 |
|
|
|
rs386833715
|
|
1.000 |
0.120 |
16 |
28487665 |
frameshift variant
|
-/A
|
delins
|
4.0E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
|
0 |
|
|
|
rs386833736
|
|
0.925 |
0.120 |
16 |
28486401 |
frameshift variant
|
-/A
|
delins
|
1.2E-05
|
7.0E-06
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
|
0 |
|
|
|
rs386833736
|
|
0.925 |
0.120 |
16 |
28486401 |
frameshift variant
|
-/A
|
delins
|
1.2E-05
|
7.0E-06
|
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
|
0 |
|
|
|
rs587779397
|
|
1.000 |
0.120 |
16 |
28487664 |
frameshift variant
|
-/A
|
ins
|
4.0E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
|
0 |
|
|
|
rs386833712
|
|
1.000 |
0.120 |
16 |
28488651 |
frameshift variant
|
-/C
|
delins
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
1.000 |
1 |
2012 |
2012 |
|
rs1555469159
|
|
1.000 |
0.120 |
16 |
28489316 |
frameshift variant
|
-/G
|
delins
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
|
0 |
|
|
|
rs386833740
|
|
0.925 |
0.120 |
16 |
28482344 |
frameshift variant
|
-/T
|
delins
|
3.2E-05;
4.0E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
1.000 |
3 |
1997 |
2013 |
|
rs386833740
|
|
0.925 |
0.120 |
16 |
28482344 |
frameshift variant
|
-/T
|
delins
|
3.2E-05;
4.0E-06
|
|
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
|
0 |
|
|
|
rs386833710
|
|
1.000 |
0.120 |
16 |
28489288 |
splice donor variant
|
A/C
|
snv
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
|
0 |
|
|
|
rs386833719
|
|
1.000 |
0.120 |
16 |
28487516 |
missense variant
|
A/C;G
|
snv
|
4.0E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 |
1.000 |
0 |
1997 |
2012 |
|
rs386833714
|
|
1.000 |
0.120 |
16 |
28487734 |
missense variant
|
A/G
|
snv
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 |
1.000 |
0 |
1997 |
2012 |
|
rs386833727
|
|
1.000 |
0.120 |
16 |
28486602 |
missense variant
|
A/G
|
snv
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 |
1.000 |
0 |
1997 |
2012 |
|
rs777625354
|
|
1.000 |
0.120 |
16 |
28491758 |
start lost
|
A/G
|
snv
|
4.0E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
|
0 |
|
|
|
rs771788391
|
|
1.000 |
0.120 |
16 |
28482475 |
splice donor variant
|
A/T
|
snv
|
8.0E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
|
0 |
|
|
|
rs1057517215
|
|
1.000 |
0.120 |
16 |
28488603 |
frameshift variant
|
AG/-
|
delins
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
|
0 |
|
|
|
rs1555468634
|
|
0.925 |
0.120 |
16 |
28485965 |
splice donor variant
|
ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/-
|
del
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
|
0 |
|
|
|
rs1555468634
|
|
0.925 |
0.120 |
16 |
28485965 |
splice donor variant
|
ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/-
|
del
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
|
0 |
|
|
|
rs386833720
|
|
0.925 |
0.120 |
16 |
28487492 |
frameshift variant
|
C/-
|
delins
|
4.0E-06
|
7.0E-06
|
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
1.000 |
3 |
1997 |
2010 |
|
rs386833720
|
|
0.925 |
0.120 |
16 |
28487492 |
frameshift variant
|
C/-
|
delins
|
4.0E-06
|
7.0E-06
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
1.000 |
1 |
1997 |
1997 |
|
rs1555468374
|
|
1.000 |
0.120 |
16 |
28484005 |
splice donor variant
|
C/-
|
delins
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
|
0 |
|
|
|
rs1555469452
|
|
1.000 |
0.120 |
16 |
28491481 |
splice donor variant
|
C/-
|
delins
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
|
0 |
|
|
|
rs386833707
|
|
1.000 |
0.120 |
16 |
28477561 |
frameshift variant
|
C/-
|
delins
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
|
0 |
|
|
|
rs386833732
|
|
0.925 |
0.120 |
16 |
28486455 |
frameshift variant
|
C/-;CC
|
delins
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
|
0 |
|
|