rs137852488
|
1.000 |
0.120 |
X |
134475257 |
missense variant |
G/C
|
snv
|
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
16 |
1983 |
2014 |
rs137852483
|
1.000 |
0.120 |
X |
134490192 |
missense variant |
T/A
|
snv
|
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
15 |
1983 |
2014 |
rs137852480
|
1.000 |
0.120 |
X |
134473453 |
missense variant |
T/C
|
snv
|
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1983 |
2014 |
rs137852481
|
1.000 |
0.120 |
X |
134475268 |
missense variant |
C/A
|
snv
|
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1983 |
2014 |
rs137852486
|
1.000 |
0.120 |
X |
134498670 |
missense variant |
T/G
|
snv
|
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1983 |
2014 |
rs137852487
|
1.000 |
0.120 |
X |
134475255 |
missense variant |
G/A
|
snv
|
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1983 |
2014 |
rs137852490
|
1.000 |
0.120 |
X |
134500030 |
missense variant |
C/G
|
snv
|
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1983 |
2014 |
rs137852491
|
1.000 |
0.120 |
X |
134473465 |
missense variant |
G/A
|
snv
|
4.4E-05
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1983 |
2014 |
rs137852492
|
1.000 |
0.120 |
X |
134498433 |
missense variant |
G/T
|
snv
|
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1983 |
2014 |
rs137852493
|
1.000 |
0.120 |
X |
134498431 |
missense variant |
C/T
|
snv
|
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1983 |
2014 |
rs137852496
|
1.000 |
0.120 |
X |
134493533 |
missense variant |
T/A
|
snv
|
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1983 |
2014 |
rs267606863
|
1.000 |
0.120 |
X |
134498655 |
missense variant |
G/A;C
|
snv
|
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1983 |
2014 |
rs137852497
|
0.925 |
0.200 |
X |
134498412 |
stop gained |
C/A;T
|
snv
|
4.4E-05
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2008 |
2008 |
rs137852495
|
0.925 |
0.120 |
X |
134475216 |
missense variant |
T/C
|
snv
|
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
15 |
1983 |
2014 |
rs1556026984
|
0.925 |
0.120 |
X |
134475194 |
missense variant |
G/C
|
snv
|
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
15 |
1983 |
2014 |
rs137852489
|
0.925 |
0.160 |
X |
134486471 |
stop gained |
C/A;T
|
snv
|
2.4E-05
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1990 |
1997 |
rs1556030169
|
0.925 |
0.160 |
X |
134498683 |
frameshift variant |
-/T
|
delins
|
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2000 |
2017 |
rs1135401801
|
1.000 |
0.120 |
X |
134473378 |
missense variant |
G/T
|
snv
|
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137852494
|
0.925 |
0.160 |
X |
134475197 |
stop gained |
C/G;T
|
snv
|
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137852503
|
1.000 |
0.120 |
X |
134493524 |
missense variant |
G/A
|
snv
|
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137852505
|
1.000 |
0.120 |
X |
134493564 |
stop gained |
T/G
|
snv
|
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569354918
|
1.000 |
0.120 |
X |
134473357 |
splice acceptor variant |
A/T
|
snv
|
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569360089
|
1.000 |
0.120 |
X |
134498441 |
splice region variant |
G/A
|
snv
|
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569360139
|
1.000 |
0.120 |
X |
134498689 |
splice region variant |
G/A
|
snv
|
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs369065223
|
0.925 |
0.160 |
X |
134486514 |
stop gained |
C/G;T
|
snv
|
5.5E-06
|
|
Lesch-Nyhan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|