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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.851 | 0.240 | 2 | 100006808 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 7 | 100113899 | missense variant | A/G;T | snv | 3.2E-05 | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.240 | 1 | 102912180 | inframe deletion | CCTCACCAGATGGGCCAG/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 1 | 109272915 | inframe insertion | -/AGAAGAGGAGGA | delins | 5.2E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
10 | 0.882 | 0.080 | 2 | 112098688 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
9 | 0.790 | 0.320 | 12 | 112489069 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.040 | 3 | 114339276 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
56 | 0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
37 | 0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.080 | X | 120544179 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.200 | 19 | 12843558 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.120 | 3 | 129500070 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.120 | 10 | 129963375 | frameshift variant | TCTC/- | del | 0.700 | 0 | ||||||||
|
5 | 1.000 | 9 | 131199023 | intron variant | T/- | delins | 0.700 | 0 | |||||||||
|
3 | 1.000 | 20 | 13534116 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
11 | 0.882 | 0.240 | 12 | 13569973 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.160 | 12 | 13571930 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 9 | 137800985 | splice donor variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.080 | 5 | 141955844 | stop gained | C/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.160 | 11 | 1451405 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.040 | 1 | 145974824 | splice acceptor variant | G/A | snv | 2.3E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.040 | 1 | 145977482 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 1.000 | X | 153693971 | missense variant | C/T | snv | 0.700 | 0 |