| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.280 | 17 | 31235773 | splice donor variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.280 | 12 | 112473023 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.280 | 12 | 112488466 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.752 | 0.280 | 12 | 112450416 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.360 | 17 | 31258500 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 17 | 31334927 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 17 | 31261810 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 17 | 31235729 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.280 | 17 | 31335032 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 17 | 31227232 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 17 | 31260481 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 17 | 31221842 | splice region variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.400 | 12 | 112477719 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.240 | 12 | 112450352 | missense variant | A/C;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.240 | 12 | 112450354 | missense variant | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.240 | 12 | 112450408 | missense variant | G/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.320 | 12 | 112473040 | missense variant | T/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.280 | 12 | 112489086 | missense variant | A/G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.320 | 17 | 31169985 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.280 | 17 | 31327719 | missense variant | G/A;C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 17 | 31338739 | stop gained | C/A;G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.280 | 17 | 31206297 | stop gained | C/T | snv | 8.0E-06; 4.0E-06 |
|
0.700 | 0 |