| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 5 | 37052453 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.320 | 9 | 137762822 | splice donor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.400 | 16 | 3026140 | missense variant | T/A | snv | 1.7E-04 | 2.0E-04 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 16 | 3728852 | frameshift variant | GCTGGGTGAGA/- | del |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 11 | 86277110 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.400 | 16 | 3027379 | missense variant | G/A;T | snv | 1.8E-04; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.320 | 16 | 8811153 | missense variant | G/A | snv | 4.1E-03 | 3.7E-03 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 16 | 8801859 | missense variant | G/A;C;T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.200 | X | 53403635 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.440 | 16 | 4800548 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.280 | 7 | 66633410 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 |
|
0.700 | 0 | |||||||||||
|
0.701 | 0.400 | 16 | 4798593 | frameshift variant | G/-;GGG | delins | 3.5E-05 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.280 | 7 | 66638394 | missense variant | G/A | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.160 | 12 | 13567164 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 19 | 52213076 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | X | 72495210 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins |
|
0.700 | 0 |