rs1553510944
|
1.000 |
0.120 |
2 |
210590189 |
frameshift variant |
G/-
|
delins
|
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553511326
|
1.000 |
0.120 |
2 |
210591970 |
splice donor variant |
G/A
|
snv
|
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553511789
|
1.000 |
0.120 |
2 |
210595543 |
frameshift variant |
-/T
|
delins
|
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553513387
|
1.000 |
0.120 |
2 |
210608360 |
splice acceptor variant |
G/T
|
snv
|
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553513433
|
1.000 |
0.120 |
2 |
210608560 |
splice donor variant |
G/A
|
snv
|
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553516660
|
1.000 |
0.120 |
2 |
210642666 |
splice donor variant |
G/A
|
snv
|
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553517224
|
1.000 |
0.120 |
2 |
210648508 |
frameshift variant |
C/-
|
delins
|
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553517670
|
1.000 |
0.120 |
2 |
210654100 |
splice donor variant |
-/GG
|
delins
|
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553518389
|
1.000 |
0.120 |
2 |
210663175 |
missense variant |
G/A
|
snv
|
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553518395
|
1.000 |
0.120 |
2 |
210663199 |
splice donor variant |
T/A
|
snv
|
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553518719
|
1.000 |
0.120 |
2 |
210668184 |
splice acceptor variant |
A/T
|
snv
|
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553518720
|
1.000 |
0.120 |
2 |
210668185 |
splice acceptor variant |
G/C
|
snv
|
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553518726
|
1.000 |
0.120 |
2 |
210668238 |
frameshift variant |
C/-
|
delins
|
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1559129372
|
1.000 |
0.120 |
2 |
210654103 |
splice donor variant |
G/C
|
snv
|
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs375979196
|
1.000 |
0.120 |
2 |
210573365 |
missense variant |
C/T
|
snv
|
2.4E-05
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs727502824
|
1.000 |
0.120 |
2 |
210642554 |
inframe deletion |
GTG/-
|
delins
|
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs752339705
|
1.000 |
0.120 |
2 |
210606911 |
missense variant |
G/A
|
snv
|
1.6E-05
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs752902711
|
1.000 |
0.120 |
2 |
210590122 |
missense variant |
A/C;G
|
snv
|
4.0E-06;
4.0E-06
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs753751183
|
1.000 |
0.120 |
2 |
210590234 |
missense variant |
G/T
|
snv
|
4.0E-06
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs755882799
|
1.000 |
0.120 |
2 |
210612116 |
splice acceptor variant |
G/A;T
|
snv
|
4.0E-06
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs756021170
|
1.000 |
0.120 |
2 |
210590157 |
stop gained |
G/A;T
|
snv
|
1.2E-05
|
2.1E-05
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs759201450
|
1.000 |
0.120 |
2 |
210605177 |
stop gained |
C/T
|
snv
|
4.0E-06
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs767694281
|
1.000 |
0.120 |
2 |
210612274 |
missense variant |
G/A;T
|
snv
|
1.2E-05
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs933813349
|
1.000 |
0.120 |
2 |
210677089 |
missense variant |
C/T
|
snv
|
|
1.4E-05
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs955666400
|
1.000 |
0.120 |
2 |
210639205 |
missense variant |
A/G
|
snv
|
|
|
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|