rs863224229
|
0.925 |
0.200 |
9 |
133356441 |
start lost |
ACCGCCGCCATCGCACCCGGCCCC/-
|
delins
|
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1410388157
|
1.000 |
0.120 |
9 |
133356415 |
frameshift variant |
-/GCAGCCC
|
delins
|
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs863224926
|
1.000 |
0.120 |
9 |
133356268 |
splice donor variant |
C/G
|
snv
|
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs782024654
|
1.000 |
0.120 |
9 |
133354713 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1998 |
2012 |
rs863224228
|
0.882 |
0.120 |
9 |
133354661 |
frameshift variant |
GGCTGGCAGA/AT
|
delins
|
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1998 |
2015 |
rs782033035
|
1.000 |
0.120 |
9 |
133353894 |
missense variant |
C/T
|
snv
|
1.2E-05
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1998 |
2012 |
rs28933402
|
0.925 |
0.120 |
9 |
133353893 |
missense variant |
C/T
|
snv
|
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1998 |
2012 |
rs1564349087
|
1.000 |
0.120 |
9 |
133353760 |
stop gained |
G/T
|
snv
|
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs782190413
|
0.925 |
0.120 |
9 |
133352708 |
missense variant |
G/A
|
snv
|
1.2E-05
|
3.5E-05
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2002 |
2014 |
rs147816470
|
1.000 |
0.120 |
9 |
133352696 |
stop gained |
G/A
|
snv
|
8.0E-06
|
2.1E-05
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs72619327
|
1.000 |
0.120 |
9 |
133352593 |
missense variant |
C/A;G
|
snv
|
4.0E-06;
1.4E-02
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs1554768333
|
1.000 |
0.120 |
9 |
133352565 |
frameshift variant |
CT/-
|
delins
|
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398122806
|
0.925 |
0.120 |
9 |
133352518 |
missense variant |
A/G
|
snv
|
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1998 |
2012 |
rs782623477
|
1.000 |
0.120 |
9 |
133352509 |
stop gained |
G/A
|
snv
|
1.1E-04
|
7.0E-05
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
1999 |
2014 |
rs1319811735
|
1.000 |
0.120 |
9 |
133352493 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121918657
|
0.925 |
0.120 |
9 |
133352446 |
stop gained |
G/A
|
snv
|
1.2E-05
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1998 |
2013 |
rs1391748504
|
1.000 |
0.120 |
9 |
133352143 |
splice acceptor variant |
C/G
|
snv
|
|
7.0E-06
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs782007828
|
1.000 |
0.120 |
9 |
133352139 |
splice acceptor variant |
CTCT/-;CT
|
delins
|
4.5E-06;
4.5E-06
|
7.0E-06
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2012 |
2014 |
rs782349178
|
1.000 |
0.120 |
9 |
133352135 |
frameshift variant |
TG/-
|
delins
|
1.4E-05
|
2.8E-05
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2006 |
2013 |
rs1554768246
|
1.000 |
0.120 |
9 |
133352134 |
frameshift variant |
-/T
|
delins
|
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs782490558
|
0.882 |
0.120 |
9 |
133352101 |
frameshift variant |
CT/-
|
delins
|
1.6E-05
|
3.5E-05
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2013 |
2015 |
rs121918658
|
0.925 |
0.120 |
9 |
133352074 |
missense variant |
A/C
|
snv
|
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1998 |
2012 |
rs782609482
|
1.000 |
0.120 |
9 |
133352060 |
splice donor variant |
C/A;T
|
snv
|
4.1E-06
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs782316919
|
0.827 |
0.160 |
9 |
133351970 |
frameshift variant |
AG/-
|
delins
|
|
8.4E-05
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1998 |
2013 |