| 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 | 0.240 | 3 | 30674231 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.776 | 0.440 | 6 | 24777296 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.200 | 1 | 61359232 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.400 | 12 | 49185197 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.400 | 1 | 1806512 | missense variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.280 | 1 | 42929008 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 1 | 102912180 | inframe deletion | CCTCACCAGATGGGCCAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 2 | 199308845 | frameshift variant | TC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.240 | 5 | 37058938 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.240 | 11 | 31801619 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.320 | 1 | 165728096 | frameshift variant | GC/- | del |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.440 | 13 | 101726732 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.280 | X | 154367844 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.400 | 1 | 209801398 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.320 | 11 | 76659963 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.695 | 0.480 | 4 | 55346393 | stop gained | G/A | snv | 1.2E-04 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.732 | 0.440 | 5 | 177235863 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.701 | 0.520 | 1 | 165743172 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.732 | 0.480 | 4 | 6301794 | stop gained | C/T | snv | 6.0E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.240 | 17 | 39673099 | missense variant | T/C;G | snv | 4.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.360 | 1 | 209790735 | missense variant | C/T | snv | 8.7E-02 | 3.9E-02 |
|
0.030 | 0.667 | 3 | 2009 | 2019 |