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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.360 | 17 | 7675052 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51065539 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 18 | 51067115 | stop gained | C/G;T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51078285 | missense variant | G/C | snv |
|
0.800 | 0 | ||||||||||||
|
1.000 | 0.120 | 18 | 51078351 | stop gained | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 7676264 | missense variant | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 19 | 1207021 | stop gained | C/A;G;T | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 12 | 51991357 | splice acceptor variant | ATGAAAAAAAATGTTCCTGGCTACTCTTTTGTATTTCTTTTTGTTTAGTTGTTTTGTTTGAGACAGAGTCTTGCACTCTTGTCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAACCTCTGCCTCCAGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGTGTTTGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCGTGTTGGCGGGGCTGGTTTCAAACTACTGATCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCCCTTTTGTGTATTTCTTGTTCCATACTTAGAATTAACTAACTTTCTAAGGAACCTTAGGGGGTAGTGGTATTTACAGAGCACAGTGTAGGTTTTGTCACCGGCTTCTGAGTAATCTTTTCCTGCTGTTGATAACTCAGGTAGATACTTTCTTTTCTCCCAGGAGTCCATGAAGAATATCAGCTGCCATATTACGACTTAGTGCCCTCTGACCCTTCCATTGAGGAAATGCGAAAGGTTGTATGTGATCAGAAGCTGCGTCCCAACATCCCCAACTGGTGGCAGAGTTATGAGGTAAGAAGCTGGCCTCCTGCGGCT/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 109904025 | missense variant | G/A | snv | 2.5E-04 | 1.4E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.480 | 18 | 51078306 | missense variant | A/G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 9 | 21971189 | missense variant | G/A;C;T | snv | 9.1E-05; 2.3E-05; 9.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.520 | 18 | 51065549 | missense variant | G/A;C;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 51986840 | frameshift variant | GATGA/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 19 | 1220630 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 19 | 1222998 | frameshift variant | AA/-;A | delins |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.360 | 17 | 7673821 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 19 | 1220702 | stop gained | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.480 | 18 | 51067121 | frameshift variant | CAGA/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 19 | 1226602 | synonymous variant | C/G;T | snv | 6.7E-05 | 6.3E-05 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.790 | 0.280 | 7 | 142751920 | missense variant | G/A;C;T | snv | 8.0E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 |