rs1553507155
|
1.000 |
0.120 |
2 |
210556736 |
start lost |
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 |
|
|
rs1553507167
|
1.000 |
0.120 |
2 |
210556758 |
stop gained |
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 |
|
|
rs1553507183
|
1.000 |
0.120 |
2 |
210556860 |
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 |
|
|
rs121912593
|
1.000 |
0.120 |
2 |
210573301 |
stop gained |
C/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 |
|
|
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 |
|
|
rs1553509010
|
1.000 |
0.120 |
2 |
210573379 |
frameshift variant |
-/AAGTGGTT
|
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 |
|
|
rs1265394565
|
1.000 |
0.120 |
2 |
210573407 |
missense variant |
G/A
|
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 |
|
|
rs1553509023
|
1.000 |
0.120 |
2 |
210573408 |
splice donor 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 |
|
|
rs1553509297
|
1.000 |
0.120 |
2 |
210576368 |
missense variant |
C/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 |
1.000 |
15 |
1998 |
2016 |
rs1553509303
|
1.000 |
0.120 |
2 |
210576410 |
frameshift variant |
A/-
|
del
|
|
|
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 |
|
|
rs1553509661
|
1.000 |
0.120 |
2 |
210579762 |
missense variant |
C/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 |
1.000 |
15 |
1998 |
2016 |
rs1553509924
|
1.000 |
0.120 |
2 |
210582681 |
frameshift variant |
GA/-
|
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 |
|
|
rs767905306
|
1.000 |
0.120 |
2 |
210588133 |
missense variant |
C/T
|
snv
|
1.6E-05
|
7.0E-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 |
1.000 |
15 |
1998 |
2016 |
rs1553510520
|
1.000 |
0.120 |
2 |
210588148 |
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 |
|
|
rs761225695
|
1.000 |
0.120 |
2 |
210590106 |
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 |
1.000 |
1 |
2003 |
2003 |
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 |
|
|
rs778346264
|
1.000 |
0.120 |
2 |
210590124 |
frameshift variant |
T/-
|
delins
|
|
7.0E-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 |
1.000 |
1 |
2006 |
2006 |
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 |
|
|
rs1471393474
|
1.000 |
0.120 |
2 |
210590182 |
missense variant |
G/A
|
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 |
|
|
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 |
|
|
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 |
|
|
rs775920437
|
1.000 |
0.120 |
2 |
210590870 |
missense variant |
C/T
|
snv
|
8.8E-05
|
7.0E-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 |
1.000 |
15 |
1998 |
2016 |
rs1273594946
|
1.000 |
0.120 |
2 |
210591833 |
missense variant |
G/A
|
snv
|
|
7.0E-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 |
|
|
rs28940283
|
1.000 |
0.120 |
2 |
210591893 |
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
|
0.800 |
1.000 |
15 |
1998 |
2016 |
rs149930500
|
1.000 |
0.120 |
2 |
210591955 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
8.0E-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 |
1.000 |
15 |
1998 |
2016 |