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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 18 | 55229003 | frameshift variant | -/ATTG | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.240 | 16 | 57660794 | frameshift variant | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 13 | 36314259 | frameshift variant | -/T | delins | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 12 | 116008442 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 1 | 1806514 | missense variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.240 | 17 | 7586766 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.280 | X | 53615786 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.280 | X | 53549413 | missense variant | A/C;G | snv | 1.1E-05 |
|
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 | ||||||||
|
0.827 | 0.280 | 15 | 66436843 | missense variant | A/G | snv | 4.0E-06 |
|
0.700 | 1.000 | 7 | 2006 | 2009 | ||||||||
|
0.776 | 0.440 | 6 | 24777296 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.200 | 1 | 1804565 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.200 | 2 | 201675255 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 3 | 47846757 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 11 | 89284940 | missense variant | A/G | snv | 1.9E-04 | 2.2E-04 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.480 | 16 | 75541466 | non coding transcript exon variant | A/G | snv | 4.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.716 | 0.320 | 9 | 97675476 | frameshift variant | AGTCTTACGGTACA/- | delins | 6.8E-05 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.716 | 0.320 | 9 | 97687208 | inframe deletion | ATTCTT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.400 | X | 48909843 | missense variant | C/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.752 | 0.240 | 19 | 13262771 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.280 | 9 | 131508926 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 |