Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.160 | 10 | 87952144 | frameshift variant | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.240 | 15 | 48425829 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.240 | 15 | 48510065 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 |
|
0.700 | 0 | |||||||||||
|
0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.080 | 17 | 10642825 | splice donor variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.360 | 17 | 61400235 | missense variant | G/A | snv | 6.5E-05 |
|
0.700 | 0 | |||||||||||
|
0.724 | 0.320 | 15 | 48411280 | stop gained | G/A;C | snv | 4.0E-05; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 9 | 93447639 | missense variant | G/A | snv | 6.8E-05 | 2.2E-04 |
|
0.700 | 0 | ||||||||||
|
0.763 | 0.280 | 15 | 82240555 | missense variant | T/C | snv | 8.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 12 | 13569973 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 12 | 80717084 | frameshift variant | AGTTCTCACC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.400 | 16 | 5079078 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 19 | 35729980 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 19 | 46746071 | 5 prime UTR variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | X | 20187956 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.280 | 12 | 2653847 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | X | 53536600 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | X | 53591113 | missense variant | T/C | snv |
|
0.700 | 0 |