rs151231558
|
1.000 |
0.160 |
5 |
132378408 |
missense variant |
G/A;T
|
snv
|
1.2E-05;
5.6E-05
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
25 |
1990 |
2019 |
rs202088921
|
1.000 |
0.160 |
5 |
132370108 |
missense variant |
C/G;T
|
snv
|
4.5E-04
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
24 |
1999 |
2017 |
rs121908890
|
1.000 |
0.160 |
5 |
132384154 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
22 |
1999 |
2017 |
rs749282641
|
1.000 |
0.160 |
5 |
132392576 |
missense variant |
C/A;T
|
snv
|
8.0E-06
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
22 |
1999 |
2017 |
rs386134221
|
1.000 |
0.160 |
5 |
132392568 |
missense variant |
C/A;G
|
snv
|
4.0E-06;
8.0E-06
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
20 |
1999 |
2017 |
rs201082652
|
1.000 |
0.160 |
5 |
132370336 |
missense variant |
G/A;T
|
snv
|
3.8E-04
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
19 |
1999 |
2017 |
rs386134210
|
1.000 |
0.160 |
5 |
132387045 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
19 |
1999 |
2017 |
rs1457258524
|
1.000 |
0.160 |
5 |
132385375 |
missense variant |
G/C
|
snv
|
4.0E-06
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
18 |
1999 |
2017 |
rs150544263
|
1.000 |
0.160 |
5 |
132389012 |
missense variant |
T/A;C
|
snv
|
4.0E-06;
5.2E-05
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
18 |
1999 |
2017 |
rs201262157
|
1.000 |
0.160 |
5 |
132385466 |
missense variant |
C/G;T
|
snv
|
3.2E-05;
3.2E-05
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
18 |
1999 |
2017 |
rs267607052
|
1.000 |
0.160 |
5 |
132370015 |
missense variant |
G/T
|
snv
|
9.6E-05
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
18 |
1999 |
2017 |
rs267607053
|
1.000 |
0.160 |
5 |
132392489 |
missense variant |
GC/AT
|
mnv
|
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
18 |
1999 |
2017 |
rs386134211
|
1.000 |
0.160 |
5 |
132387049 |
missense variant |
G/T
|
snv
|
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
18 |
1999 |
2017 |
rs386134214
|
1.000 |
0.160 |
5 |
132390725 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
18 |
1999 |
2017 |
rs386134219
|
1.000 |
0.160 |
5 |
132392507 |
missense variant |
G/A;T
|
snv
|
8.0E-06
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
18 |
1999 |
2017 |
rs68018207
|
1.000 |
0.160 |
5 |
132389020 |
stop lost |
T/C
|
snv
|
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
18 |
1999 |
2017 |
rs72552723
|
1.000 |
0.160 |
5 |
132370028 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
18 |
1999 |
2017 |
rs72552724
|
1.000 |
0.160 |
5 |
132370055 |
missense variant |
G/T
|
snv
|
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
18 |
1999 |
2017 |
rs72552728
|
1.000 |
0.160 |
5 |
132385400 |
missense variant |
G/T
|
snv
|
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
18 |
1999 |
2017 |
rs72552729
|
1.000 |
0.160 |
5 |
132387047 |
missense variant |
T/A;C
|
snv
|
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
18 |
1999 |
2017 |
rs72552730
|
1.000 |
0.160 |
5 |
132387102 |
missense variant |
C/A;G
|
snv
|
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
18 |
1999 |
2017 |
rs72552735
|
1.000 |
0.160 |
5 |
132392598 |
missense variant |
C/T
|
snv
|
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
18 |
1999 |
2017 |
rs121908893
|
1.000 |
0.160 |
5 |
132385435 |
stop gained |
C/A;T
|
snv
|
5.3E-04;
1.2E-04
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.730 |
1.000 |
10 |
2002 |
2015 |
rs377767444
|
1.000 |
0.160 |
5 |
132370034 |
inframe deletion |
TTC/-
|
delins
|
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
7 |
1990 |
2017 |
rs377767449
|
1.000 |
0.160 |
5 |
132370222 |
frameshift variant |
-/GGCTCGCCACC
|
delins
|
|
|
Renal carnitine transport defect
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
6 |
2002 |
2017 |