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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 1 | 1806509 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 1 | 22086507 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 1 | 22086856 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 13230191 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.080 | 1 | 46510953 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 1912477 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 12 | 23755726 | splice acceptor variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 3 | 70977675 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 3 | 47846757 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 16 | 9768994 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 9 | 127661140 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 3 | 49099606 | missense variant | T/C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 22 | 20994988 | missense variant | C/A;T | snv | 2.4E-05; 1.6E-04 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 12 | 116008442 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 3 | 49100222 | missense variant | G/A;C;T | snv | 8.0E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 3 | 53105728 | missense variant | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
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 | 0.200 | 13 | 101089846 | splice region variant | C/T | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.200 | 8 | 143816821 | splice acceptor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 3 | 47846550 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 2 | 201675255 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 11 | 89178218 | missense variant | T/C | snv | 4.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.200 | 11 | 89284940 | missense variant | A/G | snv | 1.9E-04 | 2.2E-04 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.200 | 13 | 36314259 | frameshift variant | -/T | delins | 1.2E-05 |
|
0.700 | 0 |