|
rs587778782
|
1.000 |
0.080 |
2 |
218814417 |
stop gained |
G/T
|
snv
|
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs587778783
|
1.000 |
0.080 |
2 |
218814433 |
missense variant |
T/A;C;G
|
snv
|
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs587778784
|
1.000 |
0.080 |
2 |
218814463 |
splice region variant |
G/A;T
|
snv
|
4.0E-06;
1.2E-05
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs587778785
|
1.000 |
0.080 |
2 |
218814544 |
splice acceptor variant |
G/A
|
snv
|
4.0E-06
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs587778787
|
1.000 |
0.080 |
2 |
218814683 |
missense variant |
C/T
|
snv
|
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs587778790
|
1.000 |
0.080 |
2 |
218809625 |
frameshift variant |
C/-
|
delins
|
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs587778793
|
1.000 |
0.080 |
2 |
218809676 |
frameshift variant |
C/-
|
del
|
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs587778794
|
1.000 |
0.080 |
2 |
218809689 |
frameshift variant |
CCAGTAC/-
|
delins
|
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs587778795
|
1.000 |
0.080 |
2 |
218809754 |
missense variant |
G/A
|
snv
|
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs587778800
|
1.000 |
0.080 |
2 |
218812358 |
stop gained |
G/T
|
snv
|
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs587778802
|
1.000 |
0.080 |
2 |
218782186 |
frameshift variant |
-/C
|
delins
|
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs587778804
|
1.000 |
0.080 |
2 |
218812551 |
splice acceptor variant |
G/T
|
snv
|
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs587778807
|
1.000 |
0.080 |
2 |
218782252 |
frameshift variant |
G/-
|
delins
|
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs587778808
|
1.000 |
0.080 |
2 |
218812657 |
stop gained |
C/A
|
snv
|
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs587778810
|
1.000 |
0.080 |
2 |
218812684 |
stop gained |
G/A
|
snv
|
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs587778815
|
1.000 |
0.080 |
2 |
218812942 |
frameshift variant |
A/-
|
del
|
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs72551314
|
1.000 |
0.080 |
2 |
218812250 |
stop gained |
C/T
|
snv
|
1.2E-05
|
1.4E-05
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs72551315
|
1.000 |
0.080 |
2 |
218812596 |
stop gained |
C/T
|
snv
|
|
1.4E-05
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs72551320
|
1.000 |
0.080 |
2 |
218814064 |
missense variant |
A/G
|
snv
|
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs755532803
|
1.000 |
0.080 |
2 |
218812569 |
frameshift variant |
CGAGAAACGCATT/-
|
delins
|
8.0E-06
|
2.1E-05
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs777935791
|
1.000 |
0.080 |
2 |
218814460 |
splice donor variant |
T/C
|
snv
|
8.0E-06
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs79535262
|
1.000 |
0.080 |
2 |
218812422 |
splice donor variant |
G/C
|
snv
|
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
|
rs886556800
|
0.827 |
0.320 |
2 |
218809576 |
splice acceptor variant |
G/T
|
snv
|
|
|
Difficulty walking
|
Pathological Conditions, Signs and Symptoms
|
0.700 |
|
0 |
|
|
|
rs886556800
|
0.827 |
0.320 |
2 |
218809576 |
splice acceptor variant |
G/T
|
snv
|
|
|
Abnormality of the cerebellum
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs886556800
|
0.827 |
0.320 |
2 |
218809576 |
splice acceptor variant |
G/T
|
snv
|
|
|
Spastic tetraparesis
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|