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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.200 | 1 | 27549742 | frameshift variant | CA/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.200 | 1 | 27549218 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.200 | 1 | 27549569 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.160 | 1 | 151412327 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 1 | 8358231 | missense variant | T/A;C | 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 | ||||||||||
|
0.925 | 0.080 | 1 | 155910695 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 1 | 244053934 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 1 | 11117039 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 2 | 218649090 | frameshift variant | TT/- | del |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 2 | 218646330 | frameshift variant | C/- | del |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.080 | 2 | 218643341 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.280 | 2 | 142956235 | stop gained | T/A | snv | 7.2E-05 | 4.9E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.280 | 2 | 143040430 | frameshift variant | TTTAAGC/- | delins | 3.2E-05 | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.280 | 2 | 1484815 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 2 | 100006808 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 2 | 165994176 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.440 | 2 | 190986921 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 2 | 25247710 | stop gained | T/A;G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.040 | 2 | 166039420 | splice region variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.400 | 2 | 216423668 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 2 | 165381114 | missense variant | A/G | snv |
|
0.700 | 0 |