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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.200 | X | 9765782 | frameshift variant | CAGCAGAAGGTCCCTAGGCGCGGGG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 21 | 45509554 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 12 | 88102888 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | X | 43949887 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.240 | 14 | 87988523 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | X | 68210239 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 15 | 52340235 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 3 | 197704686 | missense variant | C/T | snv | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.320 | 12 | 79448958 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 16 | 89556976 | frameshift variant | G/- | del | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.320 | 11 | 31789935 | stop gained | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.240 | 14 | 77027231 | stop gained | G/A;T | snv | 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.280 | 12 | 88083936 | stop gained | T/A | snv | 5.5E-05 | 9.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 17 | 58206479 | missense variant | A/C | snv | 5.6E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 17 | 80212128 | missense variant | A/G | snv | 9.6E-05 | 1.5E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.120 | 3 | 129532727 | missense variant | C/G;T | snv | 9.7E-04 | 4.1E-04 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.400 | 11 | 72302339 | missense variant | T/A;C | snv | 1.8E-04; 2.0E-04 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.240 | 4 | 25145092 | synonymous variant | C/T | snv | 2.8E-05 | 4.2E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.360 | 17 | 58208003 | splice acceptor variant | T/C;G | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.200 | 1 | 9982630 | missense variant | G/A | snv | 7.0E-04 | 8.5E-04 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.120 | 1 | 226986536 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins |
|
0.700 | 0 |