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 | 15 | 44613500 | frameshift variant | T/-;TT | delins | 0.700 | 1.000 | 6 | 2007 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 44657094 | splice donor variant | C/T | snv | 0.700 | 1.000 | 5 | 2008 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 44572682 | splice donor variant | C/A | snv | 0.700 | 1.000 | 4 | 2009 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 44564698 | missense variant | C/G;T | snv | 2.0E-05 | 0.700 | 1.000 | 4 | 2007 | 2016 | ||||
|
1 | 1.000 | 0.080 | 15 | 44626429 | stop gained | G/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2016 | ||||
|
5 | 0.882 | 0.120 | 15 | 44565954 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
1 | 1.000 | 0.080 | 15 | 44620234 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.080 | 15 | 44573652 | stop gained | G/A;C | snv | 4.0E-06; 6.8E-05 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
18 | 0.790 | 0.240 | 15 | 44659104 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 15 | 44570551 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 1.000 | 0.080 | 15 | 44660589 | frameshift variant | CTGTTACGAG/- | delins | 3.2E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 15 | 44584505 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44575042 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44584522 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 44567593 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44615411 | stop gained | A/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 44595303 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44567580 | stop gained | T/A;G | snv | 1.2E-05; 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 44573661 | stop gained | G/A;C;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 44567440 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44572795 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44610985 | frameshift variant | -/TG | ins | 0.700 | 0 | ||||||||
|
18 | 0.790 | 0.240 | 15 | 44615487 | stop gained | GTA/ATC | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44620287 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44570584 | stop gained | G/A | snv | 0.700 | 0 |