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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.776 | 0.280 | 12 | 88125370 | splice acceptor variant | C/T | snv | 1.5E-05 | 0.700 | 1.000 | 5 | 2006 | 2011 | ||||
|
4 | 0.882 | 0.200 | 12 | 88114418 | splice donor variant | CA/- | delins | 2.0E-05 | 0.700 | 1.000 | 4 | 2006 | 2013 | ||||
|
4 | 0.851 | 0.240 | 12 | 88083076 | frameshift variant | CT/- | delins | 7.1E-06 | 0.700 | 1.000 | 4 | 2007 | 2016 | ||||
|
4 | 0.851 | 0.240 | 12 | 88058846 | splice region variant | -/CC | delins | 0.700 | 1.000 | 3 | 2006 | 2010 | |||||
|
3 | 0.882 | 0.200 | 12 | 88118744 | splice acceptor variant | C/A;T | snv | 4.2E-06 | 0.700 | 1.000 | 3 | 2006 | 2010 | ||||
|
12 | 0.742 | 0.280 | 12 | 88083161 | stop gained | G/A;T | snv | 7.0E-05 | 0.700 | 1.000 | 2 | 2007 | 2017 | ||||
|
3 | 0.882 | 0.200 | 12 | 88129718 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.200 | 12 | 88055667 | frameshift variant | T/-;TT | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.200 | 12 | 88140955 | splice donor variant | C/T | snv | 4.6E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.200 | 12 | 88071370 | frameshift variant | CTCGT/- | del | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 12 | 88080196 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 12 | 88093873 | stop gained | TC/CA | mnv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 12 | 88077770 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 88077224 | stop gained | T/A;C | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.200 | 12 | 88120162 | stop gained | T/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.240 | 12 | 88111799 | frameshift variant | T/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.200 | 12 | 88077848 | frameshift variant | CT/- | delins | 1.1E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
5 | 0.851 | 0.200 | 12 | 88120121 | frameshift variant | CTCT/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.851 | 0.280 | 12 | 88077790 | frameshift variant | T/- | delins | 2.2E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2011 | |||
|
6 | 0.807 | 0.240 | 12 | 88118528 | frameshift variant | TT/-;T;TTT | delins | 7.1E-06 | 0.700 | 1.000 | 3 | 2015 | 2016 | ||||
|
3 | 0.882 | 0.200 | 12 | 88071819 | frameshift variant | TAAAG/- | delins | 4.2E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.882 | 0.200 | 12 | 88060995 | splice acceptor variant | C/T | snv | 4.5E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.200 | 12 | 88114536 | stop gained | G/A | snv | 6.8E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2007 | 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 | 88131209 | stop gained | G/A | snv | 1.4E-05 | 0.700 | 0 |