rs398122797
|
1.000 |
0.080 |
5 |
53098629 |
frameshift variant |
TT/-
|
delins
|
1.0E-04;
4.0E-06
|
1.2E-04
|
Molybdenum Cofactor Deficiency, Complementation Group B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
1999 |
1999 |
rs397518417
|
1.000 |
0.080 |
5 |
53109715 |
start lost |
CACAGCGGCACCATCCCGCCTAG/-
|
delins
|
|
|
Molybdenum Cofactor Deficiency, Complementation Group B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs398122799
|
1.000 |
0.080 |
5 |
53107110 |
frameshift variant |
G/-;GG
|
delins
|
|
|
Molybdenum Cofactor Deficiency, Complementation Group B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs121908608
|
1.000 |
0.080 |
5 |
53108643 |
missense variant |
C/A
|
snv
|
4.1E-06
|
|
Molybdenum Cofactor Deficiency, Complementation Group B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
5 |
1999 |
2006 |
rs121908605
|
1.000 |
0.080 |
5 |
53098667 |
missense variant |
C/T
|
snv
|
|
|
Molybdenum Cofactor Deficiency, Complementation Group B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
3 |
1999 |
2006 |
rs121908606
|
1.000 |
0.080 |
5 |
53107172 |
start lost |
C/T
|
snv
|
4.0E-06
|
|
Molybdenum Cofactor Deficiency, Complementation Group B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs121908607
|
0.925 |
0.080 |
5 |
53109714 |
stop gained |
G/A;T
|
snv
|
2.6E-05
|
|
Molybdenum Cofactor Deficiency, Complementation Group B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs121908609
|
1.000 |
0.080 |
5 |
53098602 |
stop lost |
T/G
|
snv
|
6.4E-05
|
1.4E-05
|
Molybdenum Cofactor Deficiency, Complementation Group B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs772575104
|
1.000 |
0.080 |
5 |
53107173 |
stop gained |
A/C;G
|
snv
|
2.4E-05
|
|
Molybdenum Cofactor Deficiency, Complementation Group B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|