rs1169875761
|
1.000 |
0.080 |
11 |
68774782 |
intron variant |
AAAAAAAAA/-;AA;AAA;AAAAAAA;AAAAAAAA;AAAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAA;AAAAAAAAAAAAAAA
|
delins
|
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
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 |
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 |
|
|
rs1057516800
|
1.000 |
0.080 |
11 |
68761565 |
stop gained |
-/TTTT
|
delins
|
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs397515543
|
1.000 |
0.080 |
11 |
68781784 |
stop gained |
G/A
|
snv
|
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs398123654
|
1.000 |
0.080 |
11 |
68812496 |
stop gained |
G/A;C;T
|
snv
|
1.6E-05;
4.0E-06
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs765161206
|
1.000 |
0.080 |
11 |
68760296 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs779893091
|
1.000 |
0.080 |
11 |
68796900 |
stop gained |
G/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs80356785
|
1.000 |
0.080 |
11 |
68773268 |
stop gained |
G/C;T
|
snv
|
4.0E-06
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs80356786
|
1.000 |
0.080 |
11 |
68815379 |
stop gained |
A/C
|
snv
|
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs80356794
|
1.000 |
0.080 |
11 |
68780673 |
stop gained |
C/T
|
snv
|
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs80356795
|
1.000 |
0.080 |
11 |
68775397 |
stop gained |
A/C;G;T
|
snv
|
|
|
Carnitine palmitoyl transferase 1A deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
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 |
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 |
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 |