| 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 | 0.200 | 9 | 129104269 | missense variant | T/C | snv | 1.1E-03 | 7.8E-04 |
|
0.700 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.925 | 0.200 | 9 | 129095573 | missense variant | C/T | snv | 1.2E-04 | 7.7E-05 |
|
0.700 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.695 | 0.400 | X | 48909843 | missense variant | C/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.708 | 0.400 | 12 | 112450364 | missense variant | T/A;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.160 | 7 | 76063579 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.400 | 17 | 67893677 | splice donor variant | A/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.360 | 17 | 67894102 | frameshift variant | -/G | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.160 | 7 | 76058047 | missense variant | C/T | snv | 5.2E-05 | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.200 | 9 | 86266174 | missense variant | C/T | snv | 4.2E-06 |
|
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 | |||||||
|
0.925 | 0.120 | 21 | 33553079 | frameshift variant | GGTAT/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.240 | 22 | 20061684 | splice donor variant | G/A;C | snv | 7.1E-05 | 5.6E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 9 | 133356441 | start lost | ACCGCCGCCATCGCACCCGGCCCC/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.200 | 1 | 1806514 | missense variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.200 | 1 | 1804565 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 21 | 33554982 | frameshift variant | TTAG/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 21 | 33549517 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 21 | 33552303 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 21 | 33557227 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2015 |