rs28937598
|
|
1.000 |
0.200 |
22 |
50523901 |
missense variant
|
G/A
|
snv
|
1.2E-05
|
7.0E-06
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
0.800 |
1.000 |
0 |
1999 |
2015 |
rs28937868
|
|
1.000 |
0.200 |
22 |
50524014 |
missense variant
|
C/T
|
snv
|
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
0.800 |
|
0 |
|
|
rs74315511
|
|
0.925 |
0.240 |
22 |
50523994 |
missense variant
|
C/T
|
snv
|
8.0E-05
|
1.1E-04
|
MYOPIA 6 (disorder)
|
0.800 |
1.000 |
0 |
2013 |
2015 |
rs74315511
|
|
0.925 |
0.240 |
22 |
50523994 |
missense variant
|
C/T
|
snv
|
8.0E-05
|
1.1E-04
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
0.800 |
1.000 |
0 |
1999 |
2015 |
rs80358232
|
|
1.000 |
0.200 |
22 |
50523738 |
missense variant
|
G/A;T
|
snv
|
4.0E-06
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
0.800 |
|
0 |
|
|
rs1064792875
|
|
1.000 |
|
22 |
50525908 |
stop gained
|
C/T
|
snv
|
|
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
|
0 |
|
|
rs121908508
|
|
1.000 |
0.200 |
22 |
50524305 |
stop gained
|
C/A;T
|
snv
|
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
0.700 |
|
0 |
|
|
rs1471478620
|
|
1.000 |
|
22 |
50525910 |
frameshift variant
|
-/G
|
delins
|
|
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
|
0 |
|
|
rs1556486107
|
|
1.000 |
|
22 |
50525898 |
frameshift variant
|
-/C
|
delins
|
|
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
|
0 |
|
|
rs1556488264
|
|
0.925 |
0.120 |
22 |
50527165 |
inframe deletion
|
AGC/-
|
delins
|
|
|
Peripheral Neuropathy
|
0.700 |
|
0 |
|
|
rs1556488264
|
|
0.925 |
0.120 |
22 |
50527165 |
inframe deletion
|
AGC/-
|
delins
|
|
|
Extraocular Muscle Paresis
|
0.700 |
|
0 |
|
|
rs1556488264
|
|
0.925 |
0.120 |
22 |
50527165 |
inframe deletion
|
AGC/-
|
delins
|
|
|
Gastrointestinal dysmotility
|
0.700 |
|
0 |
|
|
rs1556488264
|
|
0.925 |
0.120 |
22 |
50527165 |
inframe deletion
|
AGC/-
|
delins
|
|
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
|
0 |
|
|
rs74315510
|
|
0.925 |
0.240 |
22 |
50524255 |
stop gained
|
G/A
|
snv
|
8.4E-05
|
3.5E-05
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
0.700 |
|
0 |
|
|
rs74315510
|
|
0.925 |
0.240 |
22 |
50524255 |
stop gained
|
G/A
|
snv
|
8.4E-05
|
3.5E-05
|
MYOPIA 6 (disorder)
|
0.700 |
|
0 |
|
|
rs74315511
|
|
0.925 |
0.240 |
22 |
50523994 |
missense variant
|
C/T
|
snv
|
8.0E-05
|
1.1E-04
|
Seizures
|
0.700 |
|
0 |
|
|
rs74315511
|
|
0.925 |
0.240 |
22 |
50523994 |
missense variant
|
C/T
|
snv
|
8.0E-05
|
1.1E-04
|
Severe global developmental delay
|
0.700 |
|
0 |
|
|
rs74315512
|
|
1.000 |
0.200 |
22 |
50524144 |
stop gained
|
G/A
|
snv
|
1.6E-05
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
0.700 |
|
0 |
|
|
rs761665644
|
|
0.925 |
0.120 |
22 |
50527606 |
missense variant
|
T/G
|
snv
|
8.0E-06
|
|
Peripheral Neuropathy
|
0.700 |
|
0 |
|
|
rs761665644
|
|
0.925 |
0.120 |
22 |
50527606 |
missense variant
|
T/G
|
snv
|
8.0E-06
|
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
|
0 |
|
|
rs761665644
|
|
0.925 |
0.120 |
22 |
50527606 |
missense variant
|
T/G
|
snv
|
8.0E-06
|
|
Extraocular Muscle Paresis
|
0.700 |
|
0 |
|
|
rs761665644
|
|
0.925 |
0.120 |
22 |
50527606 |
missense variant
|
T/G
|
snv
|
8.0E-06
|
|
Gastrointestinal dysmotility
|
0.700 |
|
0 |
|
|
rs786205097
|
|
1.000 |
|
22 |
50525808 |
frameshift variant
|
-/G
|
delins
|
|
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
|
0 |
|
|
rs149977726
|
|
1.000 |
|
22 |
50527265 |
missense variant
|
T/C
|
snv
|
1.2E-05
|
9.8E-05
|
Mitochondrial DNA Depletion Syndrome 1
|
0.800 |
1.000 |
1 |
1999 |
2002 |
rs1060499532
|
|
1.000 |
|
22 |
50526338 |
missense variant
|
A/G
|
snv
|
|
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
1.000 |
1 |
2011 |
2011 |