rs1553155986
|
0.827 |
0.280 |
1 |
42929008 |
missense variant |
C/T
|
snv
|
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
13 |
1999 |
2018 |
rs80359818
|
0.776 |
0.360 |
1 |
42930766 |
missense variant |
G/A
|
snv
|
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
3 |
2002 |
2009 |
rs80359825
|
0.790 |
0.360 |
1 |
42929009 |
missense variant |
G/A
|
snv
|
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
|
0 |
|
|
rs121909738
|
1.000 |
0.080 |
1 |
42929694 |
missense variant |
T/C
|
snv
|
1.2E-05
|
5.6E-05
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
13 |
1999 |
2018 |
rs267607059
|
0.925 |
0.080 |
1 |
42927118 |
missense variant |
G/A
|
snv
|
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
13 |
1999 |
2018 |
rs886039517
|
1.000 |
0.080 |
1 |
42929917 |
missense variant |
C/T
|
snv
|
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
13 |
1999 |
2018 |
rs776095655
|
0.827 |
0.160 |
1 |
42927684 |
missense variant |
C/A;T
|
snv
|
4.0E-06
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2011 |
2015 |
rs796053272
|
0.827 |
0.360 |
1 |
42943323 |
splice acceptor variant |
T/C
|
snv
|
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs80359826
|
0.807 |
0.120 |
1 |
42929018 |
stop gained |
G/A;T
|
snv
|
4.0E-06
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs121909740
|
0.925 |
0.120 |
1 |
42929637 |
missense variant |
C/A;T
|
snv
|
4.0E-06
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs13306758
|
0.807 |
0.360 |
1 |
42927148 |
missense variant |
G/A;T
|
snv
|
2.8E-03
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1553155973
|
1.000 |
0.080 |
1 |
42928964 |
frameshift variant |
CAACCCGCCA/-
|
delins
|
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1553156069
|
1.000 |
0.080 |
1 |
42929728 |
frameshift variant |
C/-
|
del
|
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1557644984
|
0.925 |
0.080 |
1 |
42927622 |
missense variant |
A/G
|
snv
|
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1557646075
|
1.000 |
0.080 |
1 |
42929923 |
inframe deletion |
TCTCGGGGC/-
|
delins
|
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1557646673
|
1.000 |
0.080 |
1 |
42930842 |
frameshift variant |
-/T
|
delins
|
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1557646867
|
0.827 |
0.360 |
1 |
42931159 |
frameshift variant |
-/T
|
delins
|
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs387907312
|
0.882 |
0.200 |
1 |
42929918 |
missense variant |
G/A
|
snv
|
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs587784390
|
1.000 |
0.080 |
1 |
42943240 |
missense variant |
T/C
|
snv
|
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs587784391
|
1.000 |
0.080 |
1 |
42927794 |
frameshift variant |
C/-
|
delins
|
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs587784393
|
1.000 |
0.080 |
1 |
42943312 |
splice acceptor variant |
CGTCAGCTTC/-
|
delins
|
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs587784396
|
1.000 |
0.080 |
1 |
42929712 |
stop gained |
G/A
|
snv
|
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs587784397
|
1.000 |
0.080 |
1 |
42929613 |
stop gained |
G/A
|
snv
|
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs753161833
|
1.000 |
0.080 |
1 |
42930856 |
missense variant |
T/C
|
snv
|
1.2E-05
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs796053248
|
0.807 |
0.360 |
1 |
42929885 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|