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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | X | 153693971 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
7 | 0.925 | 0.040 | 9 | 35802550 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.080 | 6 | 50836108 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
14 | 0.776 | 0.120 | 2 | 142918608 | splice acceptor variant | G/T | snv | 1.4E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.807 | 0.120 | 6 | 10404631 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.807 | 0.120 | 2 | 166002716 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 15 | 34255385 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
15 | 0.742 | 0.120 | 1 | 26697152 | frameshift variant | -/GCCGCCTCCCTCCTCCAGCGCC | delins | 0.700 | 0 | ||||||||
|
19 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.120 | 1 | 21864095 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
14 | 0.790 | 0.160 | X | 20193547 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.160 | 3 | 70972634 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
14 | 0.763 | 0.160 | 4 | 5748226 | stop gained | C/A;T | snv | 3.2E-05; 1.2E-05 | 0.700 | 0 | |||||||
|
25 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
12 | 0.827 | 0.160 | 5 | 177256956 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.160 | 12 | 112489047 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.851 | 0.160 | 12 | 112489048 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
12 | 0.790 | 0.160 | 4 | 5719239 | intron variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||
|
15 | 0.851 | 0.200 | 6 | 78958551 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.200 | 14 | 56804268 | frameshift variant | ACA/CC | delins | 0.700 | 0 | ||||||||
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.807 | 0.240 | 9 | 95459653 | frameshift variant | C/GGGTCCACAACATCT | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.240 | X | 53573795 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
10 | 0.807 | 0.240 | 17 | 38739601 | missense variant | G/A | snv | 0.700 | 0 |