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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.280 | 12 | 101770161 | missense variant | T/C;G | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 3 | 184140517 | missense variant | C/G;T | snv | 1.6E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 15 | 72346296 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 22 | 38120867 | missense variant | T/C;G | snv | 2.4E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 8 | 95052198 | missense variant | C/G | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.360 | 16 | 74774623 | missense variant | C/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 4 | 139336933 | frameshift variant | CTTGA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 17 | 80212128 | missense variant | A/G | snv | 9.6E-05 | 1.5E-04 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.240 | 14 | 77027279 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.724 | 0.360 | 17 | 42543840 | missense variant | A/G | snv | 5.4E-05 | 1.3E-04 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.040 | 10 | 133366990 | missense variant | G/A | snv | 2.6E-04 | 1.3E-04 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.200 | 1 | 9982630 | missense variant | G/A | snv | 7.0E-04 | 8.5E-04 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins |
|
0.700 | 0 | ||||||||||||
|
0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.280 | 11 | 6616858 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 14 | 77027274 | stop gained | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.360 | 16 | 89279567 | frameshift variant | GGCTTCGG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 17 | 44212851 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 11 | 6617621 | splice region variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 14 | 77026534 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 19 | 12896243 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.200 | X | 154030631 | splice acceptor variant | CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 12 | 101764363 | frameshift variant | CTTTT/-;CTTTTCTTTT | delins | 2.8E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv |
|
0.700 | 0 |