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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.360 | 17 | 58208153 | inframe deletion | GAG/- | delins | 2.0E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 5 | 134893572 | inframe deletion | AGTTTGGCCCCTCAC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 2 | 43805249 | splice region variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 12 | 48968320 | splice acceptor variant | C/G;T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.360 | 17 | 58208003 | splice acceptor variant | T/C;G | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 12 | 76347023 | frameshift variant | CTAA/- | delins | 4.0E-06 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 15 | 72735944 | frameshift variant | G/- | del |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.160 | 8 | 143817591 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 11 | 103135949 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 2 | 43805247 | splice donor variant | G/A | snv | 2.0E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 5 | 134874531 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 7 | 33388145 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 17 | 58216664 | splice donor variant | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.480 | 16 | 75541466 | non coding transcript exon variant | A/G | snv | 4.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.724 | 0.400 | 11 | 66526181 | missense variant | T/G | snv | 1.5E-03 | 2.1E-03 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 17 | 58206479 | missense variant | A/C | snv | 5.6E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.120 | 2 | 43794485 | missense variant | C/G | snv | 2.4E-05 | 4.9E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.280 | 1 | 36139776 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 |
|
0.700 | 0 | ||||||||||
|
0.701 | 0.200 | 7 | 129206557 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 16 | 56502807 | missense variant | A/C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.320 | 17 | 19357875 | missense variant | A/G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 3 | 196707860 | stop gained | -/T | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.790 | 0.160 | 16 | 56519791 | stop gained | G/C | snv | 5.2E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.763 | 0.160 | 4 | 5748226 | stop gained | C/A;T | snv | 3.2E-05; 1.2E-05 |
|
0.700 | 0 |