Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.851 | 0.200 | 13 | 101292052 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.882 | 0.160 | 5 | 14290809 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
8 | 0.925 | 0.160 | 1 | 225403404 | stop gained | G/A | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
10 | 0.790 | 0.280 | 16 | 89281225 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
30 | 0.752 | 0.480 | 2 | 144399104 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
53 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | ||||||||
|
45 | 0.701 | 0.400 | 12 | 47983399 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
15 | 0.742 | 0.240 | 15 | 48495502 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
43 | 0.701 | 0.520 | X | 154030553 | splice acceptor variant | TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- | delins | 0.700 | 0 | ||||||||
|
12 | 0.851 | 0.320 | 11 | 17453271 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
87 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 |