rs386833794
|
1.000 |
0.080 |
14 |
22775531 |
frameshift variant |
GAAA/-
|
delins
|
|
7.0E-06
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs386833796
|
1.000 |
0.080 |
14 |
22813291 |
inframe deletion |
CCT/-
|
delins
|
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs386833798
|
1.000 |
0.080 |
14 |
22774447 |
stop gained |
-/TAGTT
|
delins
|
8.0E-06
|
7.0E-06
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs386833800
|
1.000 |
0.080 |
14 |
22774411 |
frameshift variant |
AAAG/-
|
delins
|
|
2.8E-05
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs386833801
|
1.000 |
0.080 |
14 |
22774100 |
frameshift variant |
G/-
|
delins
|
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs386833802
|
1.000 |
0.080 |
14 |
22774089 |
missense variant |
A/C;G
|
snv
|
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs386833803
|
1.000 |
0.080 |
14 |
22774018 |
frameshift variant |
G/-
|
delins
|
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs386833804
|
1.000 |
0.080 |
14 |
22773991 |
stop gained |
G/C;T
|
snv
|
8.0E-06;
4.0E-06
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs386833805
|
1.000 |
0.080 |
14 |
22773977 |
frameshift variant |
-/TGAT
|
delins
|
4.0E-06;
4.0E-06;
8.0E-06;
1.4E-04
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs386833806
|
1.000 |
0.080 |
14 |
22773975 |
frameshift variant |
C/-
|
del
|
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs386833807
|
1.000 |
0.080 |
14 |
22773960 |
stop gained |
G/A;C
|
snv
|
1.6E-05
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs386833808
|
1.000 |
0.080 |
14 |
22773945 |
stop gained |
G/A;C
|
snv
|
2.0E-05
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs386833812
|
1.000 |
0.080 |
14 |
22813181 |
frameshift variant |
GAGA/-
|
delins
|
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs386833813
|
1.000 |
0.080 |
14 |
22813144 |
frameshift variant |
AA/-
|
delins
|
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs386833817
|
1.000 |
0.080 |
14 |
22812899 |
splice donor variant |
C/T
|
snv
|
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs386833818
|
1.000 |
0.080 |
14 |
22780005 |
frameshift variant |
-/A
|
delins
|
2.4E-05;
4.0E-06
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs386833821
|
1.000 |
0.080 |
14 |
22779929 |
stop gained |
G/A
|
snv
|
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs386833822
|
1.000 |
0.080 |
14 |
22779925 |
splice donor variant |
C/G;T
|
snv
|
4.0E-05
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs386833826
|
1.000 |
0.080 |
14 |
22776268 |
frameshift variant |
-/A
|
delins
|
1.2E-05
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs386833827
|
1.000 |
0.080 |
14 |
22776194 |
splice donor variant |
C/A
|
snv
|
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs386833828
|
1.000 |
0.080 |
14 |
22775832 |
splice donor variant |
C/A
|
snv
|
|
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs771254387
|
1.000 |
0.080 |
14 |
22774477 |
stop gained |
G/A;T
|
snv
|
4.0E-05
|
2.8E-05
|
Lysinuric Protein Intolerance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|