| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.689 | 0.320 | 7 | 40046006 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.827 | 0.280 | 17 | 67975841 | missense variant | T/C;G | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.200 | 8 | 143816821 | splice acceptor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | X | 20193547 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | X | 71124276 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.240 | 15 | 48425829 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.320 | 12 | 79448958 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.160 | 4 | 5748226 | stop gained | C/A;T | snv | 3.2E-05; 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv |
|
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 | 0.240 | 3 | 142568059 | splice region variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 2 | 199272423 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 3 | 142507967 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 15 | 48488433 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 19 | 35729980 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.400 | 12 | 47983399 | stop gained | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | X | 74591586 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.400 | X | 53647576 | splice acceptor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv |
|
0.700 | 0 |