rs1057516356
|
1.000 |
0.080 |
1 |
97721672 |
splice acceptor variant |
C/G
|
snv
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516388
|
1.000 |
0.080 |
1 |
97450101 |
stop gained |
C/T
|
snv
|
1.2E-05
|
7.0E-06
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516405
|
1.000 |
0.080 |
1 |
97883262 |
splice donor variant |
A/T
|
snv
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516510
|
1.000 |
0.080 |
1 |
97234956 |
frameshift variant |
AGGT/GC
|
delins
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516615
|
1.000 |
0.080 |
1 |
97549566 |
frameshift variant |
G/-
|
del
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516671
|
1.000 |
0.080 |
1 |
97450133 |
stop gained |
C/A
|
snv
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516696
|
1.000 |
0.080 |
1 |
97595167 |
splice acceptor variant |
C/G
|
snv
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516710
|
1.000 |
0.080 |
1 |
97382397 |
frameshift variant |
G/-
|
del
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516711
|
1.000 |
0.080 |
1 |
97595107 |
frameshift variant |
A/-
|
delins
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516713
|
1.000 |
0.080 |
1 |
97549746 |
splice acceptor variant |
T/C;G
|
snv
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516761
|
1.000 |
0.080 |
1 |
97573783 |
frameshift variant |
C/-
|
delins
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516763
|
1.000 |
0.080 |
1 |
97721509 |
splice donor variant |
C/A
|
snv
|
4.0E-06
|
7.0E-06
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516828
|
1.000 |
0.080 |
1 |
97305271 |
frameshift variant |
-/T
|
ins
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516873
|
1.000 |
0.080 |
1 |
97098575 |
stop gained |
T/A;C
|
snv
|
4.0E-06
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516894
|
1.000 |
0.080 |
1 |
97098501 |
frameshift variant |
A/-
|
delins
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516997
|
1.000 |
0.080 |
1 |
97699508 |
frameshift variant |
A/-
|
delins
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057517018
|
1.000 |
0.080 |
1 |
97515795 |
frameshift variant |
T/-
|
del
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057517055
|
1.000 |
0.080 |
1 |
97373616 |
frameshift variant |
T/-
|
delins
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057517065
|
1.000 |
0.080 |
1 |
97691715 |
splice donor variant |
A/G;T
|
snv
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057517095
|
1.000 |
0.080 |
1 |
97193068 |
splice donor variant |
C/T
|
snv
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057517126
|
1.000 |
0.080 |
1 |
97549559 |
splice donor variant |
C/T
|
snv
|
4.0E-06
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057517189
|
1.000 |
0.080 |
1 |
97573788 |
frameshift variant |
G/-
|
delins
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057517230
|
1.000 |
0.080 |
1 |
97098507 |
frameshift variant |
C/-
|
delins
|
4.0E-06
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057517271
|
1.000 |
0.080 |
1 |
97193137 |
stop gained |
G/A
|
snv
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057517327
|
1.000 |
0.080 |
1 |
97193101 |
frameshift variant |
-/T
|
delins
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|