| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 |
|
0.700 | 1.000 | 4 | 2006 | 2006 | ||||||||
|
0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.280 | 12 | 111447491 | missense variant | G/A | snv | 1.5E-04 | 2.4E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 4 | 80018939 | frameshift variant | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 20 | 45416526 | frameshift variant | A/- | 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 | ||||||||||||
|
0.776 | 0.360 | 9 | 127825225 | splice region variant | A/G | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 20 | 45420215 | frameshift variant | AAAG/- | delins | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.020 | 0.500 | 2 | 2002 | 2007 | |||||||
|
0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 |
|
0.020 | 1.000 | 2 | 2008 | 2019 | ||||||||
|
0.851 | 0.160 | 15 | 51257402 | intron variant | G/A | snv | 0.64 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.763 | 0.320 | 17 | 30197993 | 3 prime UTR variant | A/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 3 | 89341043 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 1 | 157695436 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.120 | 19 | 53810777 | missense variant | G/A;C | snv | 3.6E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
14 | 76525821 | intron variant | C/T | snv | 0.79 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.120 | 14 | 95705514 | downstream gene variant | A/G | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.560 | 16 | 3243447 | missense variant | C/A;G;T | snv | 1.0E-04; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.683 | 0.440 | 12 | 6333477 | missense variant | C/G;T | snv | 4.0E-06; 1.3E-02 |
|
0.010 | 1.000 | 1 | 2007 | 2007 |