rs104894446
|
1.000 |
0.120 |
14 |
49622137 |
missense variant |
C/T
|
snv
|
|
|
Congenital disorder of glycosylation type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.800 |
1.000 |
2 |
1996 |
2000 |
rs104894447
|
1.000 |
0.120 |
14 |
49622053 |
missense variant |
A/G
|
snv
|
|
|
Congenital disorder of glycosylation type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.800 |
1.000 |
2 |
1996 |
2000 |
rs104894448
|
1.000 |
0.120 |
14 |
49622220 |
missense variant |
A/G
|
snv
|
|
|
Congenital disorder of glycosylation type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.800 |
1.000 |
2 |
1996 |
2000 |
rs104894449
|
1.000 |
0.120 |
14 |
49622285 |
stop gained |
T/A
|
snv
|
|
|
Congenital disorder of glycosylation type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1310787426
|
1.000 |
0.120 |
14 |
49621359 |
stop gained |
C/T
|
snv
|
4.1E-06
|
7.0E-06
|
Congenital disorder of glycosylation type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1566504935
|
1.000 |
0.120 |
14 |
49622020 |
frameshift variant |
-/T
|
delins
|
|
|
Congenital disorder of glycosylation type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1566505013
|
1.000 |
0.120 |
14 |
49622067 |
missense variant |
G/C
|
snv
|
|
|
Congenital disorder of glycosylation type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs730882218
|
0.925 |
0.120 |
14 |
49621979 |
missense variant |
G/C
|
snv
|
|
|
Dysmorphic facies
|
|
0.700 |
|
0 |
|
|
rs730882218
|
0.925 |
0.120 |
14 |
49621979 |
missense variant |
G/C
|
snv
|
|
|
Congenital disorder of glycosylation type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs730882218
|
0.925 |
0.120 |
14 |
49621979 |
missense variant |
G/C
|
snv
|
|
|
Global developmental delay
|
|
0.700 |
|
0 |
|
|
rs776531113
|
1.000 |
0.120 |
14 |
49622388 |
missense variant |
C/T
|
snv
|
4.0E-06
|
1.4E-05
|
Congenital disorder of glycosylation type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|