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 | 0.080 | 1 | 17028628 | missense variant | T/C;G | snv | 0.800 | 1.000 | 13 | 2001 | 2017 | |||||
|
5 | 0.882 | 0.080 | 1 | 17022649 | missense variant | G/A;T | snv | 0.700 | 1.000 | 10 | 1992 | 2013 | |||||
|
5 | 0.882 | 0.080 | 1 | 17054019 | start lost | T/A | snv | 0.700 | 1.000 | 9 | 2003 | 2013 | |||||
|
5 | 0.882 | 0.080 | 1 | 17024015 | stop gained | C/A;T | snv | 0.700 | 1.000 | 8 | 2006 | 2012 | |||||
|
5 | 0.882 | 0.080 | 1 | 17028737 | splice acceptor variant | C/G | snv | 0.700 | 1.000 | 7 | 2007 | 2016 | |||||
|
4 | 0.925 | 0.080 | 1 | 17044791 | frameshift variant | GAGGT/- | delins | 0.700 | 1.000 | 6 | 2004 | 2014 | |||||
|
5 | 0.882 | 0.080 | 1 | 17024024 | frameshift variant | G/- | delins | 0.700 | 1.000 | 5 | 2005 | 2013 | |||||
|
5 | 0.882 | 0.080 | 1 | 17033059 | splice donor variant | C/T | snv | 0.700 | 1.000 | 5 | 2006 | 2016 | |||||
|
5 | 0.882 | 0.080 | 1 | 17024076 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 5 | 2007 | 2014 | |||||
|
5 | 0.882 | 0.080 | 1 | 17033058 | splice donor variant | A/T | snv | 0.700 | 1.000 | 4 | 2006 | 2012 | |||||
|
4 | 0.925 | 0.080 | 1 | 17044889 | splice acceptor variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||
|
3 | 0.925 | 0.080 | 1 | 17024017 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 1982 | 2015 | |||||
|
7 | 0.827 | 0.200 | 1 | 17023975 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2007 | 2009 | |||||
|
3 | 0.925 | 0.080 | 1 | 17033147 | splice acceptor variant | T/G | snv | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||
|
4 | 0.882 | 0.080 | 1 | 17028691 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.080 | 1 | 17027798 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.925 | 0.080 | 1 | 17044849 | frameshift variant | G/-;GGG | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.925 | 0.080 | 1 | 17028712 | frameshift variant | T/CC | delins | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
4 | 0.882 | 0.080 | 1 | 17033075 | stop gained | T/A | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.080 | 1 | 17023994 | frameshift variant | CA/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17027790 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17024013 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17044820 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17027848 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 1 | 17022655 | frameshift variant | -/A | delins | 0.700 | 0 |