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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.742 | 0.280 | 12 | 88101183 | intron variant | T/C | snv | 2.8E-04 | 0.700 | 1.000 | 4 | 2006 | 2012 | ||||
|
6 | 0.827 | 0.240 | 3 | 132689264 | splice acceptor variant | CT/- | del | 2.6E-04 | 0.700 | 1.000 | 4 | 2008 | 2016 | ||||
|
4 | 0.851 | 0.240 | 12 | 88058846 | splice region variant | -/CC | delins | 0.700 | 1.000 | 3 | 2006 | 2010 | |||||
|
6 | 0.807 | 0.240 | 12 | 88118528 | frameshift variant | TT/-;T;TTT | delins | 7.1E-06 | 0.700 | 1.000 | 3 | 2015 | 2016 | ||||
|
8 | 0.776 | 0.280 | 12 | 88120207 | stop gained | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||
|
3 | 0.882 | 0.200 | 12 | 88089033 | frameshift variant | T/- | delins | 2.8E-05 | 0.700 | 1.000 | 2 | 2007 | 2018 | ||||
|
2 | 0.925 | 0.080 | 1 | 5887394 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2002 | 2005 | |||||
|
4 | 0.851 | 0.080 | X | 153905816 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 3 | 132682077 | inframe deletion | CCT/- | delins | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.080 | 9 | 100293045 | splice donor variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||
|
2 | 0.925 | 0.160 | 1 | 5887436 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
2 | 0.925 | 0.200 | 2 | 165898769 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.200 | 12 | 88129718 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 0.851 | 0.160 | 8 | 93808861 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.120 | 16 | 4335060 | missense variant | T/C | snv | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.200 | 12 | 88055667 | frameshift variant | T/-;TT | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 2 | 110168521 | frameshift variant | T/-;TT | delins | 2.1E-05 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 9 | 100253088 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 9 | 100300600 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | 19 | 19891767 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 3 | 132683487 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 5927733 | stop gained | C/A | snv | 2.1E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.200 | 12 | 88120162 | stop gained | T/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 9 | 100297017 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 2 | 165888354 | frameshift variant | TA/- | delins | 0.700 | 0 |