rs386833823
|
1.000 |
0.080 |
14 |
22778850 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.810 |
1.000 |
9 |
1998 |
2019 |
rs121908677
|
1.000 |
0.080 |
14 |
22813238 |
missense variant |
C/A
|
snv
|
4.0E-06
|
1.4E-05
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2008 |
rs386833792
|
1.000 |
0.080 |
14 |
22813385 |
missense variant |
G/A
|
snv
|
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2008 |
rs386833793
|
1.000 |
0.080 |
14 |
22813241 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2008 |
rs386833797
|
1.000 |
0.080 |
14 |
22775446 |
missense variant |
T/A
|
snv
|
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2008 |
rs386833799
|
1.000 |
0.080 |
14 |
22774441 |
missense variant |
G/T
|
snv
|
4.0E-06
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2008 |
rs386833810
|
1.000 |
0.080 |
14 |
22773681 |
missense variant |
A/G
|
snv
|
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2008 |
rs386833811
|
1.000 |
0.080 |
14 |
22813250 |
missense variant |
A/G;T
|
snv
|
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2008 |
rs386833814
|
1.000 |
0.080 |
14 |
22813028 |
missense variant |
A/G
|
snv
|
4.0E-06
|
2.1E-05
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2008 |
rs386833815
|
1.000 |
0.080 |
14 |
22812981 |
missense variant |
C/G
|
snv
|
1.2E-05
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2008 |
rs386833816
|
1.000 |
0.080 |
14 |
22812945 |
missense variant |
A/G
|
snv
|
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2008 |
rs386833819
|
1.000 |
0.080 |
14 |
22779988 |
missense variant |
G/A
|
snv
|
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2008 |
rs386833820
|
1.000 |
0.080 |
14 |
22779980 |
missense variant |
T/C
|
snv
|
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2008 |
rs386833824
|
1.000 |
0.080 |
14 |
22778810 |
missense variant |
C/A;G
|
snv
|
4.0E-06
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2008 |
rs386833825
|
1.000 |
0.080 |
14 |
22776307 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2008 |
rs386833829
|
1.000 |
0.080 |
14 |
22775833 |
missense variant |
C/A
|
snv
|
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2008 |
rs72552272
|
1.000 |
0.080 |
14 |
22775538 |
missense variant |
A/C
|
snv
|
8.0E-06
|
2.1E-05
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2008 |
rs386833795
|
1.000 |
0.080 |
14 |
22775526 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
8 |
1998 |
2008 |
rs386833809
|
1.000 |
0.080 |
14 |
22773686 |
frameshift variant |
C/-
|
del
|
4.0E-06
|
2.1E-05
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2000 |
2002 |
rs121908676
|
1.000 |
0.080 |
14 |
22813398 |
start lost |
T/G
|
snv
|
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs121908678
|
1.000 |
0.080 |
14 |
22774371 |
stop gained |
G/A;T
|
snv
|
4.0E-06;
2.0E-05
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs121908679
|
1.000 |
0.080 |
14 |
22778837 |
stop gained |
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1290445670
|
1.000 |
0.080 |
14 |
22773967 |
frameshift variant |
T/-
|
delins
|
|
1.4E-05
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs146582474
|
1.000 |
0.080 |
14 |
22775938 |
splice acceptor variant |
T/A;C
|
snv
|
4.3E-04
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1555320639
|
1.000 |
0.080 |
14 |
22775442 |
splice donor variant |
A/-
|
del
|
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|