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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.280 | 17 | 63957514 | missense variant | C/T | snv | 8.2E-06 | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2004 | 2008 | |||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.080 | 6 | 21594732 | missense variant | C/A;T | snv | 4.6E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.752 | 0.200 | 14 | 73217137 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.763 | 0.240 | 14 | 102002950 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.320 | 2 | 218814186 | missense variant | C/A;T | snv | 8.0E-06; 2.9E-04 |
|
0.700 | 0 | |||||||||||
|
0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.240 | 14 | 77027231 | stop gained | G/A;T | snv | 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.160 | 20 | 3918695 | missense variant | G/A | snv | 8.7E-05 | 2.3E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.160 | 4 | 121801465 | missense variant | T/C | snv | 6.0E-05 | 2.5E-04 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.240 | 14 | 77027279 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.360 | 17 | 46171276 | stop gained | G/A | snv | 5.2E-05 | 5.6E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 2 | 174824485 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.280 | 9 | 85596450 | splice acceptor variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 14 | 77027274 | stop gained | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.480 | 19 | 35718020 | frameshift variant | -/GGCGGGCGGCGGC | delins |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.280 | 12 | 2653847 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.440 | X | 53537626 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 14 | 77026534 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.520 | X | 154030553 | splice acceptor variant | TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 1 | 179917914 | missense variant | C/T | snv | 3.2E-05 | 5.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv |
|
0.700 | 0 |