rs80356779
|
0.776 |
0.320 |
11 |
68780662 |
missense variant |
G/A
|
snv
|
3.2E-05
|
5.6E-05
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
9 |
1998 |
2011 |
rs80356780
|
0.925 |
0.160 |
11 |
68760238 |
missense variant |
C/T
|
snv
|
8.1E-06
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
9 |
1998 |
2004 |
rs28936374
|
1.000 |
0.080 |
11 |
68760241 |
missense variant |
C/T
|
snv
|
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2004 |
rs80356776
|
1.000 |
0.080 |
11 |
68793341 |
missense variant |
G/A
|
snv
|
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2004 |
rs80356777
|
1.000 |
0.080 |
11 |
68784909 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2004 |
rs80356778
|
1.000 |
0.080 |
11 |
68780737 |
missense variant |
T/C
|
snv
|
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2004 |
rs80356783
|
1.000 |
0.080 |
11 |
68784951 |
missense variant |
A/C
|
snv
|
1.2E-05
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2004 |
rs80356784
|
1.000 |
0.080 |
11 |
68780705 |
missense variant |
C/A;T
|
snv
|
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2004 |
rs80356787
|
1.000 |
0.080 |
11 |
68784899 |
missense variant |
T/C
|
snv
|
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2004 |
rs80356789
|
1.000 |
0.080 |
11 |
68793370 |
missense variant |
G/A;C
|
snv
|
8.1E-06
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2004 |
rs80356790
|
1.000 |
0.080 |
11 |
68781882 |
missense variant |
G/A
|
snv
|
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2004 |
rs80356793
|
1.000 |
0.080 |
11 |
68780647 |
missense variant |
A/G
|
snv
|
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2004 |
rs80356775
|
1.000 |
0.080 |
11 |
68807553 |
missense variant |
G/A
|
snv
|
8.0E-06
|
7.0E-06
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
8 |
1998 |
2004 |
rs80356791
|
1.000 |
0.080 |
11 |
68775398 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
8 |
1998 |
2004 |
rs80356796
|
1.000 |
0.080 |
11 |
68793336 |
missense variant |
G/A;C
|
snv
|
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
8 |
1998 |
2004 |
rs148059333
|
1.000 |
0.080 |
11 |
68784814 |
splice donor variant |
C/T
|
snv
|
4.1E-05
|
4.9E-05
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs189174414
|
1.000 |
0.080 |
11 |
68780734 |
missense variant |
T/G
|
snv
|
2.2E-04
|
2.0E-04
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs80356774
|
1.000 |
0.080 |
11 |
68807622 |
stop gained |
G/A
|
snv
|
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2002 |
2002 |
rs80356782
|
1.000 |
0.080 |
11 |
68804077 |
stop gained |
G/A
|
snv
|
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2004 |
2004 |
rs80356798
|
1.000 |
0.080 |
11 |
68761688 |
splice acceptor variant |
C/G;T
|
snv
|
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2002 |
2002 |
rs1055176086
|
1.000 |
0.080 |
11 |
68799217 |
splice donor variant |
C/A;G;T
|
snv
|
4.0E-06
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516304
|
1.000 |
0.080 |
11 |
68781825 |
frameshift variant |
T/-
|
del
|
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516396
|
1.000 |
0.080 |
11 |
68793363 |
stop gained |
G/A
|
snv
|
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516434
|
1.000 |
0.080 |
11 |
68812532 |
stop gained |
C/T
|
snv
|
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516586
|
1.000 |
0.080 |
11 |
68773294 |
stop gained |
G/A
|
snv
|
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|