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 |
|
|
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 |
|
|
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 |
|
|
rs1057516566
|
1.000 |
0.080 |
12 |
120736985 |
splice acceptor variant |
G/A
|
snv
|
|
|
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 |
|
|
rs1057516639
|
1.000 |
0.080 |
12 |
120738916 |
splice donor variant |
G/A
|
snv
|
|
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516685
|
1.000 |
0.080 |
12 |
120737956 |
frameshift variant |
TT/-
|
delins
|
|
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516733
|
1.000 |
0.080 |
12 |
120727101 |
frameshift variant |
TCCAGACATGC/-
|
delins
|
|
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516967
|
1.000 |
0.080 |
12 |
120725915 |
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 |
|
|
rs1226857910
|
1.000 |
0.080 |
12 |
120739139 |
splice acceptor variant |
G/A
|
snv
|
|
1.4E-05
|
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 |
|
|
rs149107232
|
1.000 |
0.080 |
12 |
120737412 |
stop gained |
G/A;C
|
snv
|
8.0E-06;
2.8E-05
|
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1555244367
|
1.000 |
0.080 |
12 |
120739197 |
splice donor variant |
G/A;T
|
snv
|
|
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
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 |
rs57443665
|
1.000 |
0.080 |
12 |
120737893 |
missense variant |
T/C;G
|
snv
|
4.5E-04
|
|
Deficiency of butyryl-CoA dehydrogenase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
9 |
1990 |
2013 |
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 |