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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.400 | 16 | 5079078 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.320 | 18 | 6942110 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.320 | 1 | 153816414 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.280 | 6 | 78982908 | frameshift variant | CTTT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 6 | 79042902 | frameshift variant | -/T | ins |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.520 | 7 | 70766248 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.240 | 17 | 38739601 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | 20 | 32433481 | frameshift variant | AG/- | del |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.520 | X | 154030553 | splice acceptor variant | TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 10 | 49664880 | missense variant | C/G | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.400 | 16 | 5082676 | splice region variant | A/G | snv | 1.0E-04 | 1.3E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.200 | X | 53403635 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.240 | X | 72495216 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.240 | X | 111685040 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.440 | 2 | 121530892 | non coding transcript exon variant | C/G;T | snv | 7.7E-06; 2.3E-05; 3.5E-04 |
|
0.700 | 0 | |||||||||||
|
0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 8 | 42472255 | stop gained | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.200 | 10 | 49627735 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.752 | 0.280 | 1 | 119915813 | frameshift variant | G/-;GG | delins |
|
0.700 | 0 |