rs120074140
|
1.000 |
0.080 |
11 |
108146334 |
missense variant |
G/A
|
snv
|
|
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
5 |
1991 |
2019 |
rs120074143
|
1.000 |
0.080 |
11 |
108146332 |
missense variant |
G/T
|
snv
|
|
7.0E-06
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
5 |
1991 |
2019 |
rs120074145
|
1.000 |
0.080 |
11 |
108134260 |
missense variant |
A/G
|
snv
|
|
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
5 |
1991 |
2019 |
rs120074147
|
1.000 |
0.080 |
11 |
108144039 |
missense variant |
G/C
|
snv
|
|
7.4E-06
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.810 |
1.000 |
5 |
1991 |
2019 |
rs879255505
|
1.000 |
0.080 |
11 |
108140138 |
missense variant |
C/T
|
snv
|
|
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2016 |
2019 |
rs120074142
|
1.000 |
0.080 |
11 |
108121608 |
start lost |
T/A
|
snv
|
|
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1280110907
|
1.000 |
0.080 |
11 |
108146361 |
splice donor variant |
T/C
|
snv
|
|
7.0E-06
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs387906282
|
1.000 |
0.080 |
11 |
108146227 |
inframe deletion |
AGA/-
|
delins
|
|
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs387906283
|
1.000 |
0.080 |
11 |
108146278 |
frameshift variant |
-/A
|
delins
|
|
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1420321267
|
1.000 |
0.080 |
11 |
108142511 |
missense variant |
G/C
|
snv
|
|
7.0E-06
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1565297769
|
1.000 |
0.080 |
11 |
108146239 |
frameshift variant |
C/-
|
del
|
|
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs779565865
|
1.000 |
0.080 |
11 |
108133848 |
frameshift variant |
C/-
|
del
|
4.0E-06
|
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs148639841
|
1.000 |
0.080 |
11 |
108138934 |
missense variant |
A/C;G
|
snv
|
4.0E-06;
6.0E-05
|
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.810 |
0.833 |
6 |
1991 |
2019 |
rs748303093
|
1.000 |
0.080 |
11 |
108146356 |
missense variant |
T/A;C
|
snv
|
4.0E-06;
1.6E-05
|
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2018 |
2019 |
rs886041122
|
1.000 |
0.080 |
11 |
108142500 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
1.2E-05
|
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
1 |
2019 |
2019 |
rs1131691567
|
1.000 |
0.080 |
11 |
108146201 |
splice acceptor variant |
G/C
|
snv
|
4.0E-06
|
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs120074146
|
1.000 |
0.080 |
11 |
108142545 |
missense variant |
T/C;G
|
snv
|
1.6E-05;
4.0E-06
|
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
5 |
1991 |
2019 |
rs120074144
|
1.000 |
0.080 |
11 |
108141688 |
stop gained |
C/G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
1994 |
2019 |
rs727503795
|
1.000 |
0.080 |
11 |
108138906 |
frameshift variant |
GG/-
|
del
|
8.0E-06
|
4.2E-05
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs781496140
|
1.000 |
0.080 |
11 |
108146228 |
frameshift variant |
GA/-
|
delins
|
8.0E-06
|
7.0E-06
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs532190594
|
1.000 |
0.080 |
11 |
108140107 |
stop gained |
C/A;T
|
snv
|
8.0E-06;
1.2E-05
|
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
3 |
2010 |
2019 |
rs727503796
|
1.000 |
0.080 |
11 |
108141701 |
splice donor variant |
G/T
|
snv
|
8.0E-06
|
7.0E-06
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
7 |
1992 |
2019 |
rs370720208
|
1.000 |
0.080 |
11 |
108140108 |
missense variant |
G/A
|
snv
|
1.2E-05
|
4.2E-05
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs120074148
|
1.000 |
0.080 |
11 |
108135240 |
missense variant |
C/G
|
snv
|
1.2E-05
|
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs120074141
|
1.000 |
0.080 |
11 |
108139009 |
missense variant |
G/A
|
snv
|
1.6E-05
|
2.1E-05
|
Deficiency of acetyl-CoA acetyltransferase
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
5 |
1991 |
2019 |