| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.280 | 17 | 61857233 | splice acceptor variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.200 | 17 | 43104949 | stop gained | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.882 | 0.200 | 17 | 43124016 | splice donor variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.925 | 0.240 | 17 | 61847221 | splice acceptor variant | C/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.240 | 17 | 61776445 | stop gained | G/A | snv | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.280 | 17 | 61744578 | stop gained | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 10 | 87965286 | splice acceptor variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.320 | 10 | 87957958 | stop gained | T/A;C;G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.240 | 3 | 179203761 | missense variant | T/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.240 | 17 | 7673812 | missense variant | A/C;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.240 | 17 | 7674200 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.320 | 17 | 7676037 | missense variant | A/C;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.360 | 17 | 7674242 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.320 | 11 | 108272782 | stop gained | G/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 16 | 23626399 | splice acceptor variant | T/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.320 | 3 | 179204536 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 17 | 7673784 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.240 | 17 | 61743135 | splice acceptor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 7676043 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 17 | 7673794 | missense variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 17 | 7673700 | splice donor variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.280 | 11 | 14294844 | missense variant | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.700 | 0 |