rs864309533
|
1.000 |
0.080 |
9 |
101424977 |
frameshift variant |
G/-
|
delins
|
4.0E-06
|
7.0E-06
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs1057516379
|
1.000 |
0.080 |
9 |
101429753 |
splice donor variant |
A/T
|
snv
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057517091
|
1.000 |
0.080 |
9 |
101426633 |
frameshift variant |
T/-
|
del
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057517133
|
1.000 |
0.080 |
9 |
101424954 |
stop gained |
C/T
|
snv
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057517421
|
1.000 |
0.080 |
9 |
101427602 |
frameshift variant |
T/-
|
delins
|
4.0E-06
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1172384674
|
1.000 |
0.080 |
9 |
101424878 |
stop gained |
C/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs118204425
|
1.000 |
0.080 |
9 |
101424975 |
inframe deletion |
AAG/-
|
del
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs118204426
|
1.000 |
0.080 |
9 |
101425532 |
stop gained |
G/T
|
snv
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs118204430
|
1.000 |
0.080 |
9 |
101427580 |
missense variant |
A/C;G
|
snv
|
4.0E-06;
2.8E-05
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1300461861
|
1.000 |
0.080 |
9 |
101427644 |
splice acceptor variant |
T/C;G
|
snv
|
|
7.0E-06
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs138121153
|
1.000 |
0.080 |
9 |
101428468 |
splice donor variant |
C/A;T
|
snv
|
1.2E-05
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1402966846
|
1.000 |
0.080 |
9 |
101428524 |
splice acceptor variant |
C/T
|
snv
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554702325
|
1.000 |
0.080 |
9 |
101424901 |
splice acceptor variant |
C/T
|
snv
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554702353
|
1.000 |
0.080 |
9 |
101425030 |
frameshift variant |
A/-
|
delins
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554702425
|
1.000 |
0.080 |
9 |
101425539 |
frameshift variant |
-/G
|
delins
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554702890
|
1.000 |
0.080 |
9 |
101429792 |
frameshift variant |
T/-
|
delins
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1564077542
|
1.000 |
0.080 |
9 |
101425628 |
splice acceptor variant |
C/T
|
snv
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs199965465
|
1.000 |
0.080 |
9 |
101425044 |
splice acceptor variant |
T/G
|
snv
|
1.6E-05
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs387906226
|
1.000 |
0.080 |
9 |
101426626 |
inframe deletion |
ACCAGT/-
|
delins
|
|
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs900220679
|
1.000 |
0.080 |
9 |
101421809 |
stop lost |
C/G
|
snv
|
2.0E-05
|
7.0E-06
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs41281039
|
1.000 |
0.080 |
9 |
101429943 |
missense variant |
T/A
|
snv
|
4.4E-05
|
1.4E-05
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |