| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.160 | 12 | 13567164 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 2 | 178535594 | frameshift variant | -/GT | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 6 | 43044835 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.200 | 6 | 43050050 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.200 | 6 | 43052582 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.763 | 0.200 | 7 | 41964641 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 19 | 35729980 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | X | 20187956 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.200 | X | 154030631 | splice acceptor variant | CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.200 | 15 | 48420752 | missense variant | A/G;T | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.200 | 6 | 87548623 | missense variant | A/C | snv | 2.2E-04 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.200 | 6 | 87514995 | frameshift variant | T/- | delins | 1.6E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.240 | 15 | 48430742 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.240 | 15 | 48425420 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.240 | 15 | 48425829 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.240 | 15 | 48510065 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 12 | 13569973 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | X | 53536600 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 15 | 48452676 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.280 | 5 | 1411242 | splice donor variant | C/T | snv | 6.4E-06 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.763 | 0.280 | 15 | 82240555 | missense variant | T/C | snv | 8.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.280 | 12 | 2653847 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | X | 53591113 | missense variant | T/C | snv |
|
0.700 | 0 |