rs749838192
|
|
|
|
22 |
50524395 |
frameshift variant
|
-/TGAGTCACTGCTGCATGCT
|
ins
|
5.8E-04;
4.2E-06
|
8.9E-04
|
Cardiomyopathy, Dilated
|
0.700 |
1.000 |
1 |
2010 |
2010 |
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 |
|
|
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 |
|
|
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
|
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 |
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 |
|
|
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 |
|
|
rs121913036
|
|
1.000 |
|
22 |
50526638 |
missense variant
|
T/G
|
snv
|
5.3E-05
|
4.9E-05
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
1.000 |
5 |
1999 |
2013 |
rs121913040
|
|
1.000 |
|
22 |
50526474 |
missense variant
|
C/A;G;T
|
snv
|
1.2E-05;
1.2E-05
|
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
1.000 |
2 |
2005 |
2011 |
rs121913041
|
|
1.000 |
|
22 |
50527629 |
missense variant
|
C/G;T
|
snv
|
4.0E-06
|
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
1.000 |
2 |
2005 |
2009 |
rs797044455
|
|
1.000 |
|
22 |
50526142 |
splice acceptor variant
|
C/G;T
|
snv
|
|
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
1.000 |
2 |
1999 |
2000 |
rs1060499532
|
|
1.000 |
|
22 |
50526338 |
missense variant
|
A/G
|
snv
|
|
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs1060499533
|
|
1.000 |
|
22 |
50526293 |
missense variant
|
A/G
|
snv
|
|
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
1.000 |
1 |
2003 |
2003 |
rs1060499534
|
|
1.000 |
|
22 |
50526246 |
missense variant
|
C/T
|
snv
|
7.1E-06
|
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs1060499535
|
|
1.000 |
|
22 |
50526317 |
frameshift variant
|
C/-
|
delins
|
|
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs1064792865
|
|
1.000 |
|
22 |
50527716 |
start lost
|
A/C
|
snv
|
|
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs1064792866
|
|
1.000 |
|
22 |
50527704 |
missense variant
|
A/G
|
snv
|
|
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
1.000 |
1 |
2004 |
2004 |
rs1064792867
|
|
1.000 |
|
22 |
50527611 |
missense variant
|
A/C
|
snv
|
|
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs1064792868
|
|
1.000 |
|
22 |
50527223 |
missense variant
|
A/G
|
snv
|
|
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs1064792869
|
|
1.000 |
|
22 |
50527215 |
missense variant
|
C/T
|
snv
|
|
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
1.000 |
1 |
2011 |
2011 |