| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 1 | 27549742 | frameshift variant | CA/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.200 | 1 | 27549218 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.200 | 1 | 27549569 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.807 | 0.280 | 2 | 142956235 | stop gained | T/A | snv | 7.2E-05 | 4.9E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.280 | 2 | 143040430 | frameshift variant | TTTAAGC/- | delins | 3.2E-05 | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.120 | 8 | 41934340 | frameshift variant | -/T | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.200 | X | 53238308 | splice region variant | TG/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.160 | 13 | 35550528 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.040 | 5 | 150251808 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 8 | 43192413 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 19 | 7527961 | splice donor variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 19 | 7526579 | stop gained | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 6 | 33441374 | splice region variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.882 | 0.160 | 6 | 157184329 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 3 | 70977675 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | 2 | 1484815 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 14 | 102012450 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.240 | 19 | 13235666 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | X | 51744647 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 3 | 47846757 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 6 | 33441318 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 3 | 47848246 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv |
|
0.700 | 0 |