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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.160 | 1 | 42927684 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2011 | 2015 | ||||||||
|
0.776 | 0.400 | 1 | 19220814 | frameshift variant | AAGG/- | delins | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.790 | 0.240 | 1 | 46194853 | stop gained | G/A;T | snv | 2.0E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.160 | 1 | 152312601 | frameshift variant | ACTG/- | delins | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
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 | |||||||||
|
0.882 | 0.080 | 1 | 1806509 | missense variant | T/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 | |||||||||
|
0.827 | 0.120 | 1 | 1804548 | start lost | T/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.080 | 1 | 1787378 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 1 | 42930671 | frameshift variant | -/C | delins |
|
0.700 | 0 | |||||||||||||
|
0.851 | 0.280 | 1 | 102915626 | splice region variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 1 | 244856757 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 1 | 26795056 | missense variant | C/A;T | snv | 1.2E-04 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 1 | 22086507 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 1 | 43431458 | splice acceptor variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 1 | 26767868 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 1 | 26775673 | missense variant | A/G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;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 | |||||||||||
|
1.000 | 0.120 | 1 | 215602099 | frameshift variant | CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 1 | 43437254 | inframe deletion | TGT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 1 | 240092656 | missense variant | A/C;G;T | snv | 8.0E-06; 4.0E-06 |
|
0.700 | 0 |