| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 23622997 | stop gained | C/A;G | snv | 8.0E-06; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.701 | 0.400 | 17 | 7674250 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.200 | 2 | 61492337 | missense variant | C/T | snv | 4.4E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.732 | 0.240 | 4 | 152328233 | missense variant | G/A;C | snv | 4.3E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.280 | 13 | 32340757 | frameshift variant | CTTAA/- | delins | 4.2E-06 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.776 | 0.280 | 13 | 32332877 | stop gained | A/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.672 | 0.320 | 3 | 179218305 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.710 | 1.000 | 12 | 2004 | 2016 | ||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.740 | 1.000 | 10 | 2004 | 2016 | ||||||||
|
0.724 | 0.440 | 3 | 179234286 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.240 | 17 | 43106457 | missense variant | T/C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.240 | 4 | 152326215 | missense variant | G/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 13 | 32336414 | frameshift variant | GATTA/- | del | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 17 | 43093125 | frameshift variant | CA/- | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.695 | 0.440 | 17 | 7675218 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.683 | 0.480 | 17 | 7673806 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.200 | 17 | 43124030 | frameshift variant | -/T | delins | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 17 | 43092959 | stop gained | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.200 | 13 | 32394750 | stop gained | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.701 | 0.320 | 17 | 7675085 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 17 | 43091870 | stop gained | C/A;G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.320 | 17 | 7675077 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.662 | 0.440 | 17 | 7675076 | missense variant | T/A;C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |