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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 3 | 30672342 | missense variant | G/A;T | snv | 1.0E-03; 3.5E-04 | 0.700 | 0 | |||||||||
|
3 | 0.925 | 0.200 | 13 | 32363405 | frameshift variant | CC/-;C;CCC | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 13 | 32337198 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
|
2 | 1.000 | 13 | 32337345 | stop gained | T/A;G | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 13 | 32363397 | stop gained | T/A;G | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 17 | 43082474 | stop gained | G/A;T | snv | 0.700 | 0 | |||||||||
|
4 | 0.925 | 0.200 | 17 | 43104120 | splice donor variant | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 17 | 43094204 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 13 | 32370470 | frameshift variant | TTT/AAAA;NNNN | delins | 0.700 | 0 | |||||||||
|
5 | 0.882 | 0.240 | 16 | 23629986 | frameshift variant | AT/- | del | 6.4E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 17 | 7675185 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||||
|
8 | 0.851 | 0.200 | 17 | 43091924 | stop gained | G/A;C | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.200 | 17 | 43091891 | stop gained | C/A;T | snv | 9.9E-05 | 0.700 | 0 | |||||||
|
8 | 0.807 | 0.200 | 17 | 43047666 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.200 | 17 | 43092809 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.200 | 17 | 43092274 | stop gained | A/C;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
8 | 0.851 | 0.200 | 17 | 43106480 | stop gained | A/G;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.200 | 17 | 43057078 | stop gained | G/A;C;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.200 | 17 | 43124096 | start lost | T/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.200 | 17 | 43091870 | stop gained | C/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.763 | 0.240 | 17 | 43106457 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.776 | 0.280 | 17 | 43093570 | frameshift variant | TTTT/-;TT;TTT;TTTTT | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.200 | 17 | 43092197 | frameshift variant | GCTT/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.200 | 17 | 43093125 | frameshift variant | CA/- | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.200 | 17 | 43094150 | frameshift variant | -/T | delins | 0.700 | 0 |