rs386833655
|
1.000 |
0.120 |
1 |
40080474 |
missense variant |
C/T
|
snv
|
1.6E-05
|
1.4E-05
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1998 |
2006 |
rs386833645
|
0.925 |
0.120 |
1 |
40097236 |
start lost |
C/T
|
snv
|
|
1.4E-05
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1989 |
2007 |
rs386833649
|
1.000 |
0.120 |
1 |
40089456 |
stop gained |
G/A
|
snv
|
8.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1998 |
2012 |
rs386833634
|
0.925 |
0.120 |
1 |
40092462 |
frameshift variant |
-/T
|
delins
|
3.2E-05;
4.0E-06;
4.0E-06
|
1.4E-05
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1998 |
2012 |
rs1085307087
|
1.000 |
0.120 |
1 |
40097238 |
start lost |
T/C
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1998 |
1998 |
rs1349528345
|
1.000 |
0.120 |
1 |
40076863 |
frameshift variant |
-/T
|
delins
|
|
7.0E-06
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2000 |
2013 |
rs1057516575
|
1.000 |
0.120 |
1 |
40074160 |
frameshift variant |
-/A
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs1265044710
|
1.000 |
0.120 |
1 |
40080396 |
splice donor variant |
C/A
|
snv
|
4.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs1553166337
|
1.000 |
0.120 |
1 |
40076840 |
splice donor variant |
A/G
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs386833625
|
1.000 |
0.120 |
1 |
40097125 |
frameshift variant |
C/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs386833635
|
1.000 |
0.120 |
1 |
40092457 |
frameshift variant |
C/-
|
delins
|
|
7.0E-06
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs386833644
|
1.000 |
0.120 |
1 |
40091364 |
frameshift variant |
A/-
|
del
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
1998 |
1998 |
rs386833659
|
0.925 |
0.120 |
1 |
40078659 |
splice acceptor variant |
C/A;T
|
snv
|
4.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs1057516447
|
1.000 |
0.120 |
1 |
40092080 |
stop gained |
G/T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516889
|
1.000 |
0.120 |
1 |
40078632 |
frameshift variant |
-/T
|
delins
|
4.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517049
|
1.000 |
0.120 |
1 |
40092109 |
frameshift variant |
-/AAGT
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517112
|
1.000 |
0.120 |
1 |
40097185 |
frameshift variant |
TCCATGG/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517192
|
1.000 |
0.120 |
1 |
40092448 |
frameshift variant |
T/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517368
|
1.000 |
0.120 |
1 |
40097113 |
splice donor variant |
A/T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517401
|
1.000 |
0.120 |
1 |
40092044 |
splice donor variant |
C/T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553166135
|
1.000 |
0.120 |
1 |
40074147 |
stop gained |
G/A
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553166147
|
1.000 |
0.120 |
1 |
40074185 |
splice acceptor variant |
T/C
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553166499
|
1.000 |
0.120 |
1 |
40078565 |
frameshift variant |
A/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553167415
|
1.000 |
0.120 |
1 |
40091328 |
splice donor variant |
C/T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553167430
|
1.000 |
0.120 |
1 |
40091401 |
splice acceptor variant |
T/C
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|