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 | 6 | 43040335 | frameshift variant | T/- | del |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.200 | 6 | 43044835 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.200 | 6 | 43052582 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.200 | 2 | 219568050 | splice donor variant | ACCTTTGACTG/- | delins | 8.1E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.776 | 0.120 | 2 | 142918608 | splice acceptor variant | G/T | snv | 1.4E-04 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.400 | 19 | 13136099 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 12 | 25227349 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.360 | 17 | 61400235 | missense variant | G/A | snv | 6.5E-05 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 17 | 10633590 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.080 | 17 | 10643215 | intron variant | CTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 17 | 10654924 | stop gained | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.400 | X | 53647576 | splice acceptor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.480 | 21 | 45989088 | inframe deletion | AAC/- | del |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.160 | 17 | 10656089 | splice donor variant | C/T | snv | 1.2E-03 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.280 | 8 | 60850546 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.400 | 1 | 155904798 | missense variant | G/C | snv |
|
0.700 | 0 |