| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.320 | 9 | 97687208 | inframe deletion | ATTCTT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.320 | 9 | 97675476 | frameshift variant | AGTCTTACGGTACA/- | delins | 6.8E-05 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.360 | 11 | 119081189 | missense variant | T/G | snv | 1.2E-04 | 5.6E-05 |
|
0.700 | 0 | ||||||||||
|
0.716 | 0.520 | 16 | 8901028 | frameshift variant | CT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 11 | 89178218 | missense variant | T/C | snv | 4.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.200 | 11 | 89284940 | missense variant | A/G | snv | 1.9E-04 | 2.2E-04 |
|
0.700 | 0 | ||||||||||
|
0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.480 | 16 | 75541466 | non coding transcript exon variant | A/G | snv | 4.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.701 | 0.520 | 1 | 165743172 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.240 | 18 | 55229003 | frameshift variant | -/ATTG | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 9 | 127661140 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 13 | 36314259 | frameshift variant | -/T | delins | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 12 | 23755726 | splice acceptor variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.400 | X | 48909843 | missense variant | C/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 19 | 1912477 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.200 | 12 | 122517404 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.280 | 1 | 155904493 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 3 | 53105728 | missense variant | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 3 | 49099606 | missense variant | T/C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 3 | 49100222 | missense variant | G/A;C;T | snv | 8.0E-05; 4.0E-06 |
|
0.700 | 0 |