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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.160 | 19 | 46746071 | 5 prime UTR variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.360 | 18 | 6985616 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.480 | 21 | 45989088 | inframe deletion | AAC/- | del |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.520 | X | 154030553 | splice acceptor variant | TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.200 | 11 | 89177954 | start lost | A/G | snv | 6.4E-05 | 5.6E-05 |
|
0.700 | 0 | ||||||||||
|
0.752 | 0.360 | 6 | 157181137 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.440 | 7 | 140777014 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 2 | 227010441 | missense variant | C/T | snv | 7.2E-05 | 3.5E-05 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.320 | 2 | 178589003 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 2 | 227059468 | missense variant | C/G | snv | 7.2E-05 | 3.5E-05 |
|
0.700 | 0 | ||||||||||
|
0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.200 | 11 | 89227816 | splice region variant | T/A;C | snv | 9.5E-04; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.200 | 12 | 122517404 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.200 | 6 | 79026079 | stop gained | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.360 | 6 | 157181155 | frameshift variant | AA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 1 | 216073096 | splice donor variant | C/T | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins |
|
0.700 | 0 |