rs1057516257
|
1.000 |
0.120 |
6 |
73641832 |
stop gained |
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 |
|
|
rs1057516419
|
1.000 |
0.120 |
6 |
73641793 |
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 |
|
|
rs1057516505
|
1.000 |
0.120 |
6 |
73644482 |
frameshift variant |
GT/-
|
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 |
|
|
rs1057516528
|
1.000 |
0.120 |
6 |
73641926 |
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 |
|
|
rs1057516549
|
1.000 |
0.120 |
6 |
73644494 |
frameshift variant |
T/-
|
del
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
rs1057517269
|
1.000 |
0.120 |
6 |
73644483 |
frameshift variant |
G/-
|
del
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
rs1554164322
|
1.000 |
0.120 |
6 |
73641925 |
splice acceptor variant |
C/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 |
|
|
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 |
|
|
rs386833991
|
1.000 |
0.120 |
6 |
73641907 |
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 |
|
|
rs386833995
|
1.000 |
0.120 |
6 |
73644604 |
splice acceptor variant |
C/G
|
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 |
|
0 |
|
|
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 |
|
|