| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.689 | 0.320 | 7 | 40046006 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.689 | 0.480 | 7 | 92501562 | missense variant | C/T | snv | 3.2E-04 | 3.5E-04 |
|
0.700 | 0 | ||||||||||
|
0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.400 | 12 | 47983399 | stop gained | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.400 | X | 53647576 | splice acceptor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 |
|
0.700 | 0 | |||||||||||
|
0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.724 | 0.320 | 15 | 48411280 | stop gained | G/A;C | snv | 4.0E-05; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 |
|
0.700 | 0 | |||||||||||
|
0.732 | 0.480 | 4 | 6301794 | stop gained | C/T | snv | 6.0E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.240 | 15 | 48425829 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.160 | 4 | 5748226 | stop gained | C/A;T | snv | 3.2E-05; 1.2E-05 |
|
0.700 | 0 |