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 | 0.160 | 17 | 58206479 | missense variant | A/C | snv | 5.6E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.160 | 6 | 152472395 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 5 | 62361307 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.160 | 11 | 65206824 | splice region variant | G/A | snv | 1.2E-04 | 1.2E-04 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 8 | 93765413 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.200 | 1 | 1804565 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.200 | X | 9765782 | frameshift variant | CAGCAGAAGGTCCCTAGGCGCGGGG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | X | 68210239 | missense variant | A/G | snv |
|
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 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 14 | 56804268 | frameshift variant | ACA/CC | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 14 | 77027274 | stop gained | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | X | 41534892 | splice donor variant | C/AT | delins |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.200 | 11 | 89177954 | start lost | A/G | snv | 6.4E-05 | 5.6E-05 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.200 | 11 | 89227816 | splice region variant | T/A;C | snv | 9.5E-04; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 19 | 6495437 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.790 | 0.240 | 14 | 87988523 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.240 | 14 | 77027231 | stop gained | G/A;T | snv | 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.240 | 4 | 25145092 | synonymous variant | C/T | snv | 2.8E-05 | 4.2E-05 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.240 | 14 | 87968393 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.240 | 15 | 89649836 | missense variant | T/G | snv | 1.3E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.752 | 0.240 | 4 | 25145129 | splice acceptor variant | -/C | delins | 4.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.280 | 20 | 25339320 | frameshift variant | TCTTCCTCAGGCG/- | del |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.763 | 0.280 | 12 | 88083936 | stop gained | T/A | snv | 5.5E-05 | 9.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 17 | 80212128 | missense variant | A/G | snv | 9.6E-05 | 1.5E-04 |
|
0.700 | 0 |