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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 17 | 63833908 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 17 | 63837439 | splice donor variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | 22 | 41173768 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 7 | 107689054 | missense variant | T/A;C | snv | 4.0E-06; 8.6E-04 |
|
0.700 | 0 | |||||||||||
|
0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.240 | 9 | 137108433 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 1 | 11992659 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.360 | 8 | 60855993 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 3 | 48592915 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.200 | 3 | 48575218 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.400 | 16 | 3026140 | missense variant | T/A | snv | 1.7E-04 | 2.0E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.160 | 4 | 121801465 | missense variant | T/C | snv | 6.0E-05 | 2.5E-04 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.360 | 12 | 101642529 | missense variant | T/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.240 | 4 | 25145092 | synonymous variant | C/T | snv | 2.8E-05 | 4.2E-05 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.200 | 21 | 43774760 | splice acceptor variant | C/G | snv | 1.5E-04 | 2.7E-04 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 1 | 224404492 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 1 | 224404504 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv |
|
0.700 | 0 |