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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 2 | 199272423 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 1 | 145977482 | splice acceptor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 5 | 37048547 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 6 | 78958551 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 8 | 93791324 | splice region variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 10 | 75024984 | frameshift variant | GGGT/- | del |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 10 | 75030037 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.240 | 11 | 31801619 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 12 | 13569973 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 15 | 34255385 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.320 | 17 | 44853306 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.360 | X | 41346607 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | X | 72572657 | frameshift variant | GG/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | X | 153693971 | missense variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.040 | 3 | 114339276 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
11 | 64297507 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||||
|
0.882 | 0.120 | 13 | 26337623 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.400 | 16 | 3027379 | missense variant | G/A;T | snv | 1.8E-04; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 19 | 38407003 | stop gained | C/G;T | snv | 4.0E-06; 1.4E-04; 4.0E-06 | 4.9E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.200 | 15 | 65021533 | missense variant | G/A | snv | 3.5E-04 | 5.7E-04 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 3 | 49722056 | missense variant | C/T | snv | 2.9E-04 | 1.8E-04 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 4 | 55359444 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 0 |