rs61752095
|
1.000 |
0.080 |
1 |
2406526 |
missense variant |
G/C
|
snv
|
|
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
1 |
1998 |
1998 |
rs61750435
|
0.882 |
0.080 |
1 |
2406791 |
frameshift variant |
-/T
|
delins
|
2.1E-05
|
7.7E-05
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
4 |
2000 |
2010 |
rs267608183
|
0.882 |
0.080 |
1 |
2408451 |
splice donor variant |
C/T
|
snv
|
2.4E-05
|
2.1E-05
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
1998 |
2015 |
rs369965266
|
0.925 |
0.080 |
1 |
2408700 |
stop gained |
G/A
|
snv
|
|
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2000 |
2015 |
rs61750434
|
0.925 |
0.080 |
1 |
2408679 |
stop gained |
G/A
|
snv
|
|
7.0E-06
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
1998 |
2000 |
rs61752092
|
0.925 |
0.080 |
1 |
2406766 |
stop gained |
G/A;C
|
snv
|
2.5E-05
|
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2004 |
2006 |
rs62636524
|
1.000 |
0.080 |
1 |
2412499 |
frameshift variant |
C/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2004 |
2011 |
rs724160002
|
0.925 |
0.080 |
1 |
2412501 |
start lost |
A/G
|
snv
|
|
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2010 |
2011 |
rs1325771720
|
0.925 |
0.080 |
1 |
2406740 |
frameshift variant |
TG/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
1995 |
1995 |
rs1553231783
|
0.925 |
0.080 |
1 |
2406581 |
frameshift variant |
A/-
|
del
|
|
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs1553231787
|
0.925 |
0.080 |
1 |
2406600 |
frameshift variant |
TC/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs1553231820
|
0.925 |
0.080 |
1 |
2406735 |
frameshift variant |
C/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs61752093
|
0.882 |
0.080 |
1 |
2406581 |
frameshift variant |
AG/-
|
del
|
|
6.3E-05
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2003 |
2003 |
rs886041314
|
0.925 |
0.080 |
1 |
2412502 |
start lost |
T/C
|
snv
|
|
2.1E-05
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1335685844
|
0.925 |
0.080 |
1 |
2406718 |
splice donor variant |
A/G;T
|
snv
|
|
7.0E-06
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1553231739
|
0.925 |
0.080 |
1 |
2406483 |
splice donor variant |
C/G;T
|
snv
|
|
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1553231875
|
0.925 |
0.080 |
1 |
2406918 |
frameshift variant |
TC/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1553231888
|
0.925 |
0.080 |
1 |
2406920 |
frameshift variant |
CA/GAG
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1553231896
|
0.925 |
0.080 |
1 |
2406932 |
frameshift variant |
AG/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1553232077
|
0.925 |
0.080 |
1 |
2408451 |
splice donor variant |
C/-
|
del
|
|
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1553232917
|
0.925 |
0.080 |
1 |
2412477 |
frameshift variant |
G/-;GG
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1553232926
|
0.925 |
0.080 |
1 |
2412483 |
frameshift variant |
C/-
|
del
|
|
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs724159999
|
1.000 |
0.080 |
1 |
2408715 |
frameshift variant |
G/-
|
delins
|
|
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs768893724
|
0.925 |
0.080 |
1 |
2406793 |
stop gained |
GCAGCCCCATGG/-
|
del
|
4.1E-06
|
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs769251149
|
0.925 |
0.080 |
1 |
2406606 |
stop gained |
C/A;T
|
snv
|
8.0E-06
|
7.0E-06
|
PEROXISOME BIOGENESIS DISORDER 6B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|