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 | 0.120 | 21 | 33552303 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.240 | 17 | 63837200 | stop gained | -/AGGTAGAACCTTATCTGCCATCTTC | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.320 | 22 | 42211700 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.240 | 4 | 25145129 | splice acceptor variant | -/C | delins | 4.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.360 | 17 | 67894102 | frameshift variant | -/G | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | X | 154379790 | frameshift variant | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 13 | 36314259 | frameshift variant | -/T | delins | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.240 | 21 | 46125854 | frameshift variant | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.400 | 17 | 67893677 | splice donor variant | A/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 1 | 1806514 | missense variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.200 | 1 | 224404504 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.752 | 0.400 | 12 | 112477719 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2001 | 2006 | |||||||
|
0.827 | 0.200 | 1 | 1804565 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.280 | 17 | 63837439 | splice donor variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 16 | 23452993 | start lost | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.400 | 16 | 5082676 | splice region variant | A/G | snv | 1.0E-04 | 1.3E-04 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.120 | 7 | 40046007 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 9 | 133356441 | start lost | ACCGCCGCCATCGCACCCGGCCCC/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 21 | 33557227 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del |
|
0.700 | 0 |