rs1057516951
|
1.000 |
0.120 |
6 |
73600350 |
splice donor variant |
C/T
|
snv
|
|
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs146095590
|
1.000 |
0.120 |
6 |
73610399 |
splice donor variant |
C/A;T
|
snv
|
8.0E-06
|
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1999 |
2005 |
rs386833989
|
0.925 |
0.120 |
6 |
73610433 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554161865
|
1.000 |
0.120 |
6 |
73610451 |
frameshift variant |
C/-
|
delins
|
|
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833988
|
1.000 |
0.120 |
6 |
73610520 |
frameshift variant |
AC/-
|
del
|
5.2E-05
|
7.0E-05
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2000 |
2005 |
rs1057517111
|
1.000 |
0.120 |
6 |
73610532 |
frameshift variant |
G/-
|
del
|
|
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517119
|
1.000 |
0.120 |
6 |
73610538 |
frameshift variant |
C/-
|
delins
|
|
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516910
|
1.000 |
0.120 |
6 |
73615410 |
stop gained |
C/T
|
snv
|
4.0E-06
|
1.4E-05
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2005 |
2015 |
rs386833987
|
1.000 |
0.120 |
6 |
73615418 |
frameshift variant |
TA/-
|
del
|
|
7.0E-06
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs386833996
|
0.925 |
0.120 |
6 |
73615443 |
missense variant |
C/T
|
snv
|
|
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554162230
|
1.000 |
0.120 |
6 |
73615449 |
splice acceptor variant |
T/C
|
snv
|
|
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs201284672
|
0.925 |
0.120 |
6 |
73621864 |
stop gained |
A/C
|
snv
|
8.4E-05
|
1.3E-04
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2000 |
2014 |
rs1057516601
|
1.000 |
0.120 |
6 |
73621873 |
stop gained |
C/T
|
snv
|
|
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs771156053
|
1.000 |
0.120 |
6 |
73621877 |
frameshift variant |
T/-
|
delins
|
8.0E-06
|
2.8E-05
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554162842
|
1.000 |
0.120 |
6 |
73621964 |
splice acceptor variant |
T/G
|
snv
|
|
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517028
|
1.000 |
0.120 |
6 |
73635381 |
splice donor variant |
C/T
|
snv
|
4.0E-06
|
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833994
|
1.000 |
0.120 |
6 |
73635385 |
inframe deletion |
TTTCTTAATGATGAA/-
|
delins
|
4.0E-05
|
2.8E-05
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2000 |
2005 |
rs386833993
|
1.000 |
0.120 |
6 |
73635482 |
stop gained |
C/T
|
snv
|
5.0E-05
|
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs1554163878
|
1.000 |
0.120 |
6 |
73635482 |
frameshift variant |
-/A
|
delins
|
|
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1440688652
|
1.000 |
0.120 |
6 |
73636619 |
splice donor variant |
A/G
|
snv
|
4.0E-06
|
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516862
|
1.000 |
0.120 |
6 |
73636628 |
frameshift variant |
G/-
|
del
|
|
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1472109408
|
1.000 |
0.120 |
6 |
73636653 |
frameshift variant |
-/A
|
delins
|
8.0E-06
|
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554163958
|
1.000 |
0.120 |
6 |
73636708 |
splice acceptor variant |
C/T
|
snv
|
|
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554164078
|
1.000 |
0.120 |
6 |
73638410 |
splice donor variant |
A/T
|
snv
|
|
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs727504156
|
1.000 |
0.120 |
6 |
73638492 |
frameshift variant |
G/-
|
del
|
4.8E-05
|
6.3E-05
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1999 |
2005 |