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 | 0.851 | 0.120 | 10 | 129963375 | frameshift variant | TCTC/- | del | 0.700 | 0 | ||||||||
|
10 | 0.827 | 0.160 | 10 | 75024984 | frameshift variant | GGGT/- | del | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.160 | 11 | 1451405 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.882 | 0.080 | 19 | 43747509 | frameshift variant | GG/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 1.000 | 9 | 131199023 | intron variant | T/- | delins | 0.700 | 0 | |||||||||
|
73 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
12 | 0.827 | 0.240 | 19 | 49835897 | frameshift variant | C/- | delins | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
8 | 0.851 | 0.240 | 1 | 102912180 | inframe deletion | CCTCACCAGATGGGCCAG/- | delins | 0.700 | 0 | ||||||||
|
10 | 0.882 | 0.080 | 2 | 161423825 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 15 | 34255385 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.320 | 17 | 44853306 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.120 | X | 72572657 | frameshift variant | GG/- | delins | 0.700 | 0 | ||||||||
|
51 | 0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins | 0.700 | 0 | ||||||||
|
25 | 0.763 | 0.200 | X | 154030631 | splice acceptor variant | CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.280 | 17 | 42537517 | frameshift variant | CGGCCAGGAG/- | delins | 1.2E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.160 | 17 | 50571953 | inframe deletion | TTC/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 1 | 109272915 | inframe insertion | -/AGAAGAGGAGGA | delins | 5.2E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
4 | 1.000 | 0.280 | 6 | 157207395 | frameshift variant | CC/- | delins | 0.700 | 0 | ||||||||
|
12 | 0.807 | 0.440 | 16 | 89284635 | frameshift variant | GTTTT/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
17 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
6 | 0.882 | 0.160 | 7 | 39686740 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.851 | 0.160 | 8 | 93808861 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
10 | 0.882 | 0.080 | 2 | 112098688 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 1.000 | 0.080 | 5 | 141955844 | stop gained | C/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.080 | 19 | 43744768 | splice region variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |