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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.200 | 13 | 32340035 | stop gained | -/A | delins | 0.700 | 1.000 | 9 | 2001 | 2012 | |||||
|
4 | 0.882 | 0.280 | 13 | 32398184 | frameshift variant | -/A | delins | 0.700 | 1.000 | 9 | 2002 | 2014 | |||||
|
4 | 0.882 | 0.240 | 13 | 32336684 | frameshift variant | -/A | delins | 0.700 | 1.000 | 8 | 2002 | 2016 | |||||
|
3 | 0.925 | 0.200 | 13 | 32339318 | stop gained | -/A | delins | 0.700 | 1.000 | 7 | 2007 | 2016 | |||||
|
2 | 0.925 | 0.200 | 17 | 43094018 | frameshift variant | -/A | delins | 0.700 | 1.000 | 5 | 2002 | 2017 | |||||
|
2 | 0.925 | 0.200 | 17 | 43047682 | frameshift variant | -/A | delins | 0.700 | 1.000 | 4 | 2001 | 2015 | |||||
|
3 | 0.925 | 0.200 | 13 | 32340432 | frameshift variant | -/A | delins | 0.700 | 1.000 | 4 | 2008 | 2014 | |||||
|
5 | 0.851 | 0.200 | 17 | 58695008 | stop gained | -/A | delins | 0.700 | 1.000 | 4 | 2010 | 2016 | |||||
|
3 | 0.925 | 0.200 | 17 | 43091771 | frameshift variant | -/A | delins | 0.700 | 1.000 | 4 | 1998 | 2013 | |||||
|
3 | 0.925 | 0.200 | 13 | 32336936 | frameshift variant | -/A | delins | 7.0E-06 | 0.700 | 1.000 | 4 | 2000 | 2014 | ||||
|
1 | 1.000 | 0.200 | 13 | 32371055 | frameshift variant | -/A | delins | 0.700 | 1.000 | 3 | 2001 | 2018 | |||||
|
3 | 0.925 | 0.200 | 13 | 32338103 | frameshift variant | -/A | delins | 0.700 | 1.000 | 3 | 2002 | 2018 | |||||
|
2 | 0.925 | 0.200 | 17 | 43092179 | frameshift variant | -/A | delins | 0.700 | 1.000 | 3 | 2012 | 2018 | |||||
|
3 | 0.925 | 0.200 | 13 | 32338630 | frameshift variant | -/A | delins | 0.700 | 1.000 | 2 | 2004 | 2017 | |||||
|
3 | 0.925 | 0.200 | 13 | 32357842 | frameshift variant | -/A | delins | 0.700 | 1.000 | 2 | 2011 | 2015 | |||||
|
1 | 1.000 | 0.200 | 13 | 32346887 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.200 | 13 | 32336524 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.200 | 13 | 32336831 | frameshift variant | -/A | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.200 | 13 | 32338824 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.200 | 17 | 43099809 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.200 | 17 | 43071114 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.200 | 13 | 32356516 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.200 | 17 | 43093487 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.200 | 17 | 43092669 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.200 | 13 | 32356508 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2011 | 2011 |