| 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 | 0.240 | 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 | |||||||||||
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.724 | 0.320 | 15 | 48411280 | stop gained | G/A;C | snv | 4.0E-05; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.732 | 0.200 | 15 | 48420752 | missense variant | A/G;T | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.708 | 0.280 | 15 | 48505106 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 15 | 48452676 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.440 | 13 | 101726732 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 16 | 81357848 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 17 | 44911317 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.200 | 7 | 41964641 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 12 | 13569973 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.160 | 12 | 13567164 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 9 | 2005 | 2009 | |||||||||
|
0.851 | 0.240 | X | 53536600 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | X | 53591113 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.320 | X | 53647390 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 2 | 240785063 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.200 | 19 | 35729980 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.200 | X | 154030631 | splice acceptor variant | CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
0.700 | 0 |