Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | MT | 10134 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | MT | 10158 | missense variant | T/C | snv | 0.700 | 1.000 | 4 | 2003 | 2005 | |||||
|
2 | 0.925 | 0.120 | MT | 10191 | missense variant | T/C | snv | 0.710 | 1.000 | 7 | 2001 | 2019 | |||||
|
3 | 0.882 | 0.200 | MT | 10197 | missense variant | G/A | snv | 0.800 | 1.000 | 2 | 2007 | 2009 | |||||
|
1 | 1.000 | 0.120 | MT | 10254 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
13 | 0.742 | 0.240 | 12 | 112489104 | missense variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.882 | 0.160 | MT | 11777 | missense variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2003 | 2004 | |||||
|
2 | 0.925 | 0.160 | MT | 11778 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 3 | 119517281 | stop gained | C/G;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.120 | X | 119873312 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.120 | 12 | 123256876 | frameshift variant | G/- | del | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.120 | 11 | 126275000 | frameshift variant | -/AGTG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | MT | 12706 | missense variant | T/C | snv | 0.800 | 1.000 | 5 | 2002 | 2007 | |||||
|
1 | 1.000 | 0.120 | 9 | 128325849 | missense variant | G/A;C | snv | 1.2E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.925 | 0.200 | 9 | 129095573 | missense variant | C/T | snv | 1.2E-04 | 7.7E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
8 | 0.925 | 0.200 | 9 | 129104269 | missense variant | T/C | snv | 1.1E-03 | 7.8E-04 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
3 | 0.882 | 0.200 | MT | 13084 | missense variant | A/T | snv | 0.700 | 1.000 | 3 | 2002 | 2007 | |||||
|
9 | 0.827 | 0.160 | 9 | 133351970 | frameshift variant | AG/- | delins | 8.4E-05 | 0.700 | 1.000 | 5 | 1998 | 2013 | ||||
|
4 | 1.000 | 0.120 | 9 | 133352060 | splice donor variant | C/A;T | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 9 | 133352074 | missense variant | A/C | snv | 0.700 | 1.000 | 7 | 1998 | 2012 | |||||
|
3 | 0.882 | 0.120 | 9 | 133352101 | frameshift variant | CT/- | delins | 1.6E-05 | 3.5E-05 | 0.700 | 1.000 | 2 | 2013 | 2015 | |||
|
1 | 1.000 | 0.120 | 9 | 133352134 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 133352135 | frameshift variant | TG/- | delins | 1.4E-05 | 2.8E-05 | 0.700 | 1.000 | 5 | 2006 | 2013 | |||
|
1 | 1.000 | 0.120 | 9 | 133352139 | splice acceptor variant | CTCT/-;CT | delins | 4.5E-06; 4.5E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 2012 | 2014 | |||
|
1 | 1.000 | 0.120 | 9 | 133352143 | splice acceptor variant | C/G | snv | 7.0E-06 | 0.700 | 0 |