rs28941474
|
|
|
6 |
131573314 |
missense variant |
T/C
|
snv
|
4.0E-06
|
7.0E-06
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
5 |
1992 |
2018 |
rs104893948
|
|
|
6 |
131583392 |
missense variant |
G/A;C
|
snv
|
2.0E-05;
8.0E-06
|
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1992 |
2016 |
rs104893943
|
|
|
6 |
131581326 |
missense variant |
G/T
|
snv
|
|
7.0E-06
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
4 |
1992 |
2013 |
rs104893944
|
|
|
6 |
131576666 |
stop gained |
C/G;T
|
snv
|
4.0E-06;
6.0E-05
|
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
2 |
1999 |
2012 |
rs104893940
|
|
|
6 |
131583810 |
stop gained |
C/T
|
snv
|
2.0E-05
|
2.8E-05
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
1992 |
2016 |
rs1064794165
|
|
|
6 |
131582620 |
splice acceptor variant |
G/C
|
snv
|
2.8E-05
|
7.0E-06
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1995 |
2015 |
rs140549609
|
|
|
6 |
131581296 |
missense variant |
A/G
|
snv
|
3.2E-05
|
2.8E-05
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1994 |
2016 |
rs1554251045
|
|
|
6 |
131582619 |
splice acceptor variant |
A/G
|
snv
|
|
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
1995 |
1995 |
rs587776539
|
|
|
6 |
131573340 |
splice donor variant |
G/A
|
snv
|
8.0E-06
|
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
1995 |
1995 |
rs771395982
|
|
|
6 |
131583812 |
frameshift variant |
A/-
|
delins
|
|
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs104893942
|
|
|
6 |
131583808 |
missense variant |
C/G
|
snv
|
|
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104893947
|
|
|
6 |
131581278 |
stop gained |
G/A
|
snv
|
8.0E-06
|
2.1E-05
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs113767658
|
|
|
6 |
131576736 |
splice donor variant |
G/A;T
|
snv
|
|
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1169538148
|
|
|
6 |
131576733 |
frameshift variant |
A/-
|
delins
|
|
7.0E-06
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554249332
|
|
|
6 |
131573284 |
start lost |
T/C
|
snv
|
|
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554250040
|
|
|
6 |
131576661 |
splice acceptor variant |
A/C
|
snv
|
|
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554251158
|
|
|
6 |
131583136 |
frameshift variant |
-/GAAA
|
delins
|
|
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554251191
|
|
|
6 |
131583379 |
frameshift variant |
T/-
|
delins
|
|
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554251356
|
|
|
6 |
131583876 |
frameshift variant |
A/-
|
delins
|
|
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1562356664
|
|
|
6 |
131579167 |
frameshift variant |
C/-
|
delins
|
|
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1562361837
|
|
|
6 |
131583781 |
frameshift variant |
C/-
|
delins
|
|
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs747579073
|
|
|
6 |
131583476 |
stop gained |
G/A;T
|
snv
|
8.0E-06
|
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs755359126
|
|
|
6 |
131583831 |
missense variant |
G/A;C
|
snv
|
4.0E-05
|
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs776939220
|
|
|
6 |
131581284 |
frameshift variant |
-/T
|
delins
|
8.0E-06
|
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs796051923
|
|
|
6 |
131579251 |
frameshift variant |
G/-;GG
|
delins
|
|
|
Hyperargininemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|