rs750941135
|
1.000 |
0.080 |
12 |
120727085 |
frameshift variant |
-/A
|
delins
|
4.0E-06;
1.6E-05
|
7.0E-06
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516606
|
1.000 |
0.080 |
12 |
120738643 |
frameshift variant |
-/C
|
delins
|
|
7.0E-06
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs765758808
|
1.000 |
0.080 |
12 |
120725913 |
frameshift variant |
-/CGGGCCC
|
delins
|
6.2E-06
|
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516436
|
1.000 |
0.080 |
12 |
120738326 |
frameshift variant |
-/G
|
delins
|
|
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057517155
|
1.000 |
0.080 |
12 |
120739141 |
frameshift variant |
A/-
|
del
|
|
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs387906950
|
1.000 |
0.080 |
12 |
120739141 |
missense variant |
A/G
|
snv
|
1.0E-04
|
1.4E-05
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2008 |
2011 |
rs1057516231
|
1.000 |
0.080 |
12 |
120737835 |
splice acceptor variant |
A/G
|
snv
|
|
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1291226969
|
1.000 |
0.080 |
12 |
120725886 |
start lost |
A/G
|
snv
|
6.4E-06
|
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516385
|
1.000 |
0.080 |
12 |
120737090 |
frameshift variant |
C/-
|
del
|
|
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516848
|
1.000 |
0.080 |
12 |
120737891 |
stop gained |
C/A
|
snv
|
|
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs140853839
|
1.000 |
0.080 |
12 |
120738874 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
1.4E-04
|
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
4 |
2006 |
2016 |
rs28940875
|
1.000 |
0.080 |
12 |
120739347 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
9.3E-05
|
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
9 |
1990 |
2018 |
rs752677472
|
1.000 |
0.080 |
12 |
120737404 |
stop gained |
C/G;T
|
snv
|
3.2E-05;
4.0E-06
|
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2003 |
2003 |
rs541587321
|
1.000 |
0.080 |
12 |
120739194 |
stop gained |
C/G;T
|
snv
|
8.1E-06
|
7.0E-06
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs749491616
|
1.000 |
0.080 |
12 |
120737364 |
stop gained |
C/G;T
|
snv
|
8.0E-06
|
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs28940872
|
1.000 |
0.080 |
12 |
120739356 |
missense variant |
C/T
|
snv
|
9.7E-05
|
7.7E-05
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
11 |
1990 |
2017 |
rs61732144
|
1.000 |
0.080 |
12 |
120737094 |
missense variant |
C/T
|
snv
|
9.7E-04
|
5.4E-04
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
10 |
1990 |
2014 |
rs121908003
|
1.000 |
0.080 |
12 |
120727115 |
missense variant |
C/T
|
snv
|
1.6E-04
|
1.1E-04
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
7 |
1990 |
2017 |
rs28941773
|
0.925 |
0.120 |
12 |
120739168 |
missense variant |
C/T
|
snv
|
2.0E-04
|
2.0E-04
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
7 |
1990 |
2011 |
rs147442301
|
1.000 |
0.080 |
12 |
120727143 |
missense variant |
C/T
|
snv
|
3.6E-05
|
7.0E-06
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
6 |
2008 |
2016 |
rs121908006
|
1.000 |
0.080 |
12 |
120738859 |
missense variant |
C/T
|
snv
|
2.0E-05
|
6.3E-05
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
3 |
1990 |
2001 |
rs28940874
|
1.000 |
0.080 |
12 |
120737939 |
missense variant |
C/T
|
snv
|
4.4E-05
|
5.6E-05
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
1990 |
2001 |
rs1800556
|
1.000 |
0.080 |
12 |
120737875 |
missense variant |
C/T
|
snv
|
2.4E-05;
3.1E-02
|
3.2E-02
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs766579880
|
1.000 |
0.080 |
12 |
120737960 |
missense variant |
C/T
|
snv
|
3.2E-05
|
2.8E-05
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs796051906
|
1.000 |
0.080 |
12 |
120738874 |
missense variant |
CGC/TGT
|
mnv
|
|
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|