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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.763 | 0.240 | 17 | 67918802 | missense variant | G/A;C | snv | 1.2E-05 |
|
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 | 0.200 | 17 | 67909751 | splice donor variant | GAAGGACCAAGG/- | del |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.807 | 0.160 | 17 | 67912720 | frameshift variant | TG/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.120 | 17 | 67975933 | stop gained | A/T | snv |
|
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 | |||||||
|
0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.716 | 0.400 | 19 | 13136099 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.240 | 11 | 2585264 | missense variant | A/G | snv | 4.0E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.240 | X | 53534615 | missense variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.280 | X | 136040055 | frameshift variant | TCTTCCTTAACCACCGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.200 | X | 154030631 | splice acceptor variant | CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.200 | X | 150659665 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.200 | 6 | 87548623 | missense variant | A/C | snv | 2.2E-04 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.200 | 6 | 87514995 | frameshift variant | T/- | delins | 1.6E-05 | 7.0E-06 |
|
0.700 | 0 |