rs1554126798
|
0.925 |
0.080 |
6 |
42964904 |
frameshift variant |
G/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs61753219
|
0.672 |
0.400 |
6 |
42978330 |
missense variant |
G/A
|
snv
|
3.6E-05
|
2.8E-05
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2004 |
2013 |
rs267608241
|
0.882 |
0.080 |
6 |
42965712 |
stop gained |
G/A
|
snv
|
2.0E-05;
4.0E-06
|
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs61753230
|
0.882 |
0.240 |
6 |
42965262 |
missense variant |
G/A
|
snv
|
|
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554128488
|
0.925 |
0.080 |
6 |
42978745 |
frameshift variant |
G/AT
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs61753212
|
0.925 |
0.080 |
6 |
42978634 |
frameshift variant |
T/-
|
del
|
1.0E-05
|
7.0E-06
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2004 |
2010 |
rs1554127415
|
0.925 |
0.080 |
6 |
42968987 |
splice acceptor variant |
T/-
|
del
|
|
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs267608242
|
0.925 |
0.080 |
6 |
42965370 |
splice acceptor variant |
T/C
|
snv
|
|
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554128501
|
0.925 |
0.080 |
6 |
42978763 |
frameshift variant |
TCTC/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554128347
|
1.000 |
0.080 |
6 |
42978267 |
splice region variant |
TGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACC/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|