| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 218346929 | frameshift variant | TTGCTCCAGGAGAAGGC/- | delins |
|
0.700 | 1.000 | 7 | 2004 | 2015 | |||||||||||
|
0.925 | 0.280 | 16 | 89282771 | frameshift variant | TT/- | delins |
|
0.700 | 1.000 | 17 | 2004 | 2017 | |||||||||
|
1.000 | 12 | 23734746 | frameshift variant | TT/- | del |
|
0.700 | 1.000 | 6 | 2012 | 2017 | ||||||||||
|
1.000 | 3 | 9734167 | frameshift variant | TT/- | delins |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||||
|
1.000 | 20 | 32435475 | frameshift variant | TGTTGAGC/CAA | delins |
|
0.700 | 1.000 | 7 | 2004 | 2015 | ||||||||||
|
1.000 | 6 | 156778646 | frameshift variant | TGCGAGCGGCGGCC/G | delins |
|
0.700 | 1.000 | 20 | 1984 | 2017 | ||||||||||
|
X | 23379829 | frameshift variant | TGCACAGCAAAGAC/- | del |
|
0.700 | 1.000 | 5 | 2010 | 2015 | |||||||||||
|
1 | 168281162 | frameshift variant | TGAG/- | delins | 8.0E-06 |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | X | 71224099 | frameshift variant | TG/- | delins |
|
0.700 | 1.000 | 10 | 2003 | 2017 | |||||||||
|
1.000 | 16 | 578404 | frameshift variant | TG/- | del | 2.8E-05 | 2.1E-05 |
|
0.700 | 1.000 | 9 | 1998 | 2015 | ||||||||
|
0.701 | 0.520 | X | 154030553 | splice acceptor variant | TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 2 | 199308769 | frameshift variant | TC/- | delins |
|
0.700 | 1.000 | 21 | 1989 | 2017 | ||||||||||
|
0.925 | 10 | 133369907 | frameshift variant | TA/- | delins | 1.6E-05 | 1.3E-04 |
|
0.700 | 1.000 | 14 | 2014 | 2018 | ||||||||
|
0.925 | 0.160 | 12 | 101764957 | frameshift variant | TA/- | del | 4.0E-06 |
|
0.700 | 1.000 | 9 | 2005 | 2016 | ||||||||
|
7 | 114534645 | stop gained | T/G | snv |
|
0.700 | 1.000 | 9 | 1990 | 2017 | |||||||||||
|
5 | 161336685 | missense variant | T/G | snv |
|
0.700 | 1.000 | 8 | 2012 | 2017 | |||||||||||
|
3 | 139348309 | stop gained | T/G | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 5 | 2007 | 2017 | |||||||||
|
0.925 | 0.120 | 5 | 140674776 | missense variant | T/G | snv | 2.0E-05 | 9.1E-05 |
|
0.700 | 1.000 | 4 | 2012 | 2016 | |||||||
|
0.882 | 0.040 | 5 | 150250270 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.120 | X | 154432444 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.160 | 16 | 3508407 | missense variant | T/G | snv | 1.3E-05 | 4.2E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | X | 103776997 | start lost | T/C;G | snv |
|
0.700 | 1.000 | 12 | 1989 | 2016 | |||||||||
|
0.790 | 0.360 | 7 | 140754187 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 8 | 1968 | 2013 | |||||||||
|
0.807 | 0.120 | 9 | 37783993 | missense variant | T/C;G | snv | 4.1E-04 |
|
0.700 | 1.000 | 7 | 1994 | 2014 | ||||||||
|
0.925 | 0.160 | 15 | 72347711 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 |