| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 1 | 109272915 | inframe insertion | -/AGAAGAGGAGGA | delins | 5.2E-05 | 4.2E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.240 | 1 | 102912180 | inframe deletion | CCTCACCAGATGGGCCAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 17 | 50571953 | inframe deletion | TTC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.360 | 1 | 155904470 | stop lost | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 19 | 43744768 | splice region variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.160 | 8 | 93791324 | splice region variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 21 | 43774760 | splice acceptor variant | C/G | snv | 1.5E-04 | 2.7E-04 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.040 | 1 | 145977482 | splice acceptor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.200 | X | 154030631 | splice acceptor variant | CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.040 | 16 | 78424869 | splice acceptor variant | G/A | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 1 | 145974824 | splice acceptor variant | G/A | snv | 2.3E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 11 | 1451405 | frameshift variant | AG/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.080 | 19 | 43747509 | frameshift variant | GG/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.120 | 10 | 129963375 | frameshift variant | TCTC/- | del |
|
0.700 | 0 | ||||||||||||
|
0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 19 | 49835897 | frameshift variant | C/- | delins | 1.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 2 | 161423825 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 10 | 75024984 | frameshift variant | GGGT/- | del |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 15 | 34255385 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.320 | 17 | 44853306 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | X | 72572657 | frameshift variant | GG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.280 | 17 | 42537517 | frameshift variant | CGGCCAGGAG/- | delins | 1.2E-05 | 2.8E-05 |
|
0.700 | 0 |