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 |
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 |
|
|
rs386833632
|
1.000 |
0.120 |
1 |
40092494 |
splice acceptor variant |
-/ACA
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833653
|
1.000 |
0.120 |
1 |
40080485 |
splice acceptor variant |
-/G
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
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 |
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 |
|
|
rs386833667
|
1.000 |
0.120 |
1 |
40076865 |
stop gained |
-/T
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
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 |
|
|
rs386833642
|
1.000 |
0.120 |
1 |
40092082 |
missense variant |
A/C
|
snv
|
4.0E-06
|
7.0E-06
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2012 |
rs386833663
|
1.000 |
0.120 |
1 |
40078603 |
missense variant |
A/C
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2012 |
rs1557714302
|
0.925 |
0.120 |
1 |
40092486 |
stop gained |
A/C
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833629
|
1.000 |
0.120 |
1 |
40092522 |
intron variant |
A/C
|
snv
|
4.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833643
|
1.000 |
0.120 |
1 |
40091402 |
splice region variant |
A/C
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833671
|
1.000 |
0.120 |
1 |
40074068 |
missense variant |
A/C;G
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2012 |
rs386833661
|
1.000 |
0.120 |
1 |
40078621 |
missense variant |
A/G
|
snv
|
|
1.4E-05
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2012 |
rs386833665
|
1.000 |
0.120 |
1 |
40076901 |
missense variant |
A/G
|
snv
|
8.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2012 |
rs386833669
|
1.000 |
0.120 |
1 |
40074096 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2012 |
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 |
rs386833636
|
1.000 |
0.120 |
1 |
40092175 |
splice region variant |
A/G
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833652
|
1.000 |
0.120 |
1 |
40089408 |
splice donor variant |
A/G
|
snv
|
4.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833662
|
1.000 |
0.120 |
1 |
40078612 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs796052927
|
1.000 |
0.120 |
1 |
40097237 |
start lost |
A/G
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs878853323
|
0.882 |
0.160 |
1 |
40092499 |
missense variant |
A/G
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|