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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.200 | X | 85255275 | frameshift variant | -/A | delins | 0.700 | 1.000 | 2 | 2009 | 2017 | |||||
|
4 | 0.882 | 0.200 | 6 | 85533701 | frameshift variant | -/AAAAAAAAAAA | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
27 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.320 | 22 | 42211700 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 10 | 79307487 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 12 | 116237653 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 15 | 92997299 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
10 | 0.882 | 0.160 | 2 | 161423752 | frameshift variant | -/GGCTGCA | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 11 | 70661635 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.240 | 16 | 57660794 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.240 | 13 | 24912736 | frameshift variant | -/T | delins | 3.2E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
6 | 0.925 | 0.240 | 6 | 157200866 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.240 | 18 | 33738903 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 6 | 85508043 | frameshift variant | A/- | del | 6.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.160 | 2 | 166013745 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 1 | 11129789 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
16 | 0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.200 | 2 | 165381114 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.240 | 6 | 157181040 | frameshift variant | AA/- | delins | 0.700 | 0 | ||||||||
|
10 | 0.851 | 0.320 | 11 | 119278162 | splice acceptor variant | AAAG/- | del | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.200 | 2 | 199348742 | frameshift variant | AC/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.160 | 11 | 1451405 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.851 | 0.240 | 1 | 42929977 | frameshift variant | AT/- | del | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.160 | 15 | 76471314 | frameshift variant | ATTG/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.882 | 0.160 | X | 41341587 | frameshift variant | C/- | del | 0.700 | 0 |