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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.851 | 0.120 | 8 | 41934340 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.882 | X | 110264571 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
11 | 0.851 | 0.120 | 2 | 8730956 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
31 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
30 | 0.752 | 0.480 | 2 | 144399104 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 1 | 22086463 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 15 | 96332352 | stop gained | G/T | snv | 0.700 | 0 | |||||||||
|
11 | 0.807 | 0.120 | 7 | 128857103 | splice acceptor variant | ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG | delins | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.120 | 13 | 26337623 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 14 | 23400708 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||||
|
17 | 0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
12 | 0.827 | 0.200 | 11 | 2572020 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | X | 110317643 | stop gained | A/G;T | snv | 1.2E-04 | 2.8E-05 | 0.700 | 0 |