|
rs121434286
|
|
0.882 |
0.120 |
16 |
28482500 |
stop gained
|
C/A;T
|
snv
|
2.4E-05
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.820 |
1.000 |
2 |
1997 |
2015 |
|
rs386833730
|
|
1.000 |
0.120 |
16 |
28486464 |
missense variant
|
C/G
|
snv
|
4.0E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.810 |
1.000 |
0 |
1997 |
2012 |
|
rs386833695
|
|
0.925 |
0.120 |
16 |
28482160 |
missense variant
|
C/T
|
snv
|
2.4E-05
|
2.1E-05
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 |
1.000 |
8 |
1997 |
2013 |
|
rs386833694
|
|
0.925 |
0.120 |
16 |
28482161 |
missense variant
|
G/A;T
|
snv
|
4.0E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 |
1.000 |
6 |
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 |
|
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 |
|
rs386833727
|
|
1.000 |
0.120 |
16 |
28486602 |
missense variant
|
A/G
|
snv
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 |
1.000 |
0 |
1997 |
2012 |
|
rs386833731
|
|
1.000 |
0.120 |
16 |
28486459 |
missense variant
|
C/A;G
|
snv
|
4.0E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 |
1.000 |
0 |
1997 |
2012 |
|
rs386833744
|
|
0.925 |
0.160 |
16 |
28482173 |
missense variant
|
C/A;T
|
snv
|
2.0E-05
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 |
1.000 |
0 |
1997 |
2012 |
|
rs267606737
|
|
0.882 |
0.120 |
16 |
28486427 |
stop gained
|
G/T
|
snv
|
4.0E-06
|
|
Neuronal Ceroid-Lipofuscinoses
|
0.710 |
1.000 |
0 |
2009 |
2009 |
|
rs386833694
|
|
0.925 |
0.120 |
16 |
28482161 |
missense variant
|
G/A;T
|
snv
|
4.0E-06
|
|
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
1.000 |
6 |
1997 |
2009 |
|
rs386833695
|
|
0.925 |
0.120 |
16 |
28482160 |
missense variant
|
C/T
|
snv
|
2.4E-05
|
2.1E-05
|
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
1.000 |
6 |
1997 |
2013 |
|
rs1555468632
|
|
0.925 |
0.160 |
16 |
28485963 |
splice donor variant
|
TTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGAGA/-
|
delins
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
1.000 |
3 |
1995 |
2008 |
|
rs267606737
|
|
0.882 |
0.120 |
16 |
28486427 |
stop gained
|
G/T
|
snv
|
4.0E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
1.000 |
3 |
2009 |
2012 |
|
rs386833702
|
|
1.000 |
0.120 |
16 |
28477636 |
splice acceptor variant
|
C/A
|
snv
|
8.0E-06
|
7.0E-06
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
1.000 |
3 |
1997 |
2015 |
|
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 |
|
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 |
|
rs386833697
|
|
1.000 |
0.120 |
16 |
28482107 |
stop gained
|
G/A
|
snv
|
8.1E-06
|
2.1E-05
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
1.000 |
2 |
2012 |
2013 |
|
rs386833701
|
|
1.000 |
0.120 |
16 |
28477739 |
stop gained
|
C/A;G
|
snv
|
4.0E-06
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
1.000 |
2 |
2004 |
2012 |
|
rs386833728
|
|
1.000 |
0.120 |
16 |
28486577 |
splice donor variant
|
C/G;T
|
snv
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
1.000 |
2 |
1999 |
2015 |
|
rs139842473
|
|
1.000 |
0.080 |
16 |
28477620 |
missense variant
|
G/A;C;T
|
snv
|
7.2E-05;
4.0E-06
|
|
Retinitis Pigmentosa
|
0.700 |
1.000 |
1 |
2014 |
2014 |
|
rs386833698
|
|
0.925 |
0.120 |
16 |
28482102 |
splice region variant
|
T/G
|
snv
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
1.000 |
1 |
2014 |
2014 |
|
rs386833709
|
|
0.925 |
0.120 |
16 |
28489298 |
stop gained
|
G/A
|
snv
|
|
1.4E-05
|
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
1.000 |
1 |
2012 |
2012 |
|
rs386833712
|
|
1.000 |
0.120 |
16 |
28488651 |
frameshift variant
|
-/C
|
delins
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.700 |
1.000 |
1 |
2012 |
2012 |
|
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 |