rs267608229
|
0.925 |
0.080 |
6 |
42966658 |
splice acceptor variant |
C/T
|
snv
|
|
2.1E-05
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
4 |
1996 |
2015 |
rs267608240
|
0.925 |
0.080 |
6 |
42966044 |
missense variant |
C/T
|
snv
|
1.6E-05
|
7.0E-06
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
4 |
2001 |
2016 |
rs34324426
|
0.882 |
0.080 |
6 |
42967450 |
missense variant |
C/T
|
snv
|
2.7E-03
|
2.9E-03
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2009 |
2015 |
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 |
rs61753229
|
0.882 |
0.240 |
6 |
42965717 |
missense variant |
C/T
|
snv
|
1.2E-05
|
1.4E-05
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
1999 |
2015 |
rs267608216
|
0.882 |
0.080 |
6 |
42969714 |
frameshift variant |
CCAGGCCT/-
|
delins
|
8.0E-05
|
2.1E-05
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2009 |
2010 |
rs267608227
|
1.000 |
0.080 |
6 |
42966796 |
frameshift variant |
C/-
|
delins
|
2.0E-05
|
3.5E-05
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2009 |
2010 |
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 |
rs1010184002
|
0.689 |
0.400 |
6 |
42978878 |
stop gained |
C/T
|
snv
|
|
7.0E-06
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1491384052
|
0.925 |
0.080 |
6 |
42978640 |
frameshift variant |
-/A
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
1996 |
1996 |
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 |
rs61753209
|
0.925 |
0.080 |
6 |
42978840 |
frameshift variant |
C/-
|
delins
|
1.8E-05
|
2.1E-05
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs63749004
|
0.925 |
0.080 |
6 |
42978336 |
frameshift variant |
CCAGTCCGTCAGCG/-
|
delins
|
1.2E-05
|
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs863225083
|
0.882 |
0.080 |
6 |
42967411 |
frameshift variant |
A/-
|
del
|
4.0E-06
|
7.0E-06
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1356280167
|
0.925 |
0.080 |
6 |
42979018 |
stop gained |
C/A;T
|
snv
|
8.1E-06
|
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1416001981
|
0.925 |
0.080 |
6 |
42974001 |
splice donor variant |
A/G
|
snv
|
4.0E-06
|
7.0E-06
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1443107232
|
0.925 |
0.080 |
6 |
42966043 |
splice donor variant |
C/T
|
snv
|
4.0E-06
|
7.0E-06
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|
rs1554126955
|
0.925 |
0.080 |
6 |
42965713 |
frameshift variant |
C/-;CC
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554127383
|
0.925 |
0.080 |
6 |
42968872 |
splice donor variant |
A/-
|
del
|
|
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|
rs1554127533
|
0.925 |
0.080 |
6 |
42969802 |
splice acceptor variant |
C/A
|
snv
|
|
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554127968
|
0.925 |
0.080 |
6 |
42974874 |
splice donor variant |
C/T
|
snv
|
|
|
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 |
|
|
rs1554128461
|
0.925 |
0.080 |
6 |
42978644 |
frameshift variant |
CT/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 4B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|