Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.925 | 0.040 | 5 | 150251979 | splice donor variant | -/A | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
21 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
9 | 0.882 | 21 | 37480756 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 0.925 | 0.120 | 21 | 33552303 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | X | 20161641 | splice donor variant | -/A | delins | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.160 | 10 | 87933178 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
73 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.807 | 0.120 | 1 | 29200513 | splice donor variant | -/A | delins | 1.4E-04 | 6.3E-05 | 0.700 | 0 | ||||||
|
4 | 1.000 | 6 | 33440746 | frameshift variant | -/AGGA | delins | 0.700 | 0 | |||||||||
|
15 | 0.827 | 0.240 | 18 | 55229003 | frameshift variant | -/ATTG | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 12 | 101757459 | coding sequence variant | -/ATTTTAGAACAGTGCTTAATAGACAAAATATTGTAGAATTATAAAAAAGCCAGACCTTTGTGATTACTCTTATACTAAACAAAGGGAGTATGCGTGTACTACTTACCTATATTTGTTTTTGTCCTTATATGCTTTGTGGATTTTGTCAGTTACTGGTTTACAGTTTGTTACTAGACTTTTAGTGACCGGTGGCTATGAGAAAATATAA | delins | 0.700 | 0 | ||||||||
|
5 | 1.000 | 1 | 42930671 | frameshift variant | -/C | delins | 0.700 | 0 | |||||||||
|
5 | 0.925 | 0.040 | 8 | 143817380 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 1 | 45508296 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.040 | 20 | 48953604 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.360 | 17 | 67894102 | frameshift variant | -/G | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.851 | 0.240 | 11 | 118496323 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.080 | 16 | 68347257 | frameshift variant | -/GCTCTCCG | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 19 | 49861818 | frameshift variant | -/GTCGATGGCGACCCGTT | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 9 | 127666193 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.160 | 10 | 87952144 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.240 | 16 | 57660794 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.200 | 13 | 36314259 | frameshift variant | -/T | delins | 1.2E-05 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 5 | 69509603 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.040 | 2 | 227702236 | frameshift variant | -/TC | delins | 2.4E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 |