| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.807 | 0.280 | 21 | 37480785 | stop gained | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 5 | 36984990 | frameshift variant | CT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 8 | 143817668 | frameshift variant | -/TTTT | delins |
|
0.700 | 0 | ||||||||||||
|
0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.280 | X | 134425256 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 18 | 44951954 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 11 | 61766173 | frameshift variant | GCACCGGGCCCCCCATC/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 11 | 61784321 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | X | 74591586 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.400 | X | 53647576 | splice acceptor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 |
|
0.700 | 0 | |||||||||||
|
0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 2 | 176094518 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 |
|
0.050 | 1.000 | 5 | 2005 | 2017 | ||||||||
|
0.925 | 0.120 | X | 50492002 | intergenic variant | G/A | snv | 0.39 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.925 | 0.120 | X | 50439186 | intron variant | G/A | snv | 0.46 |
|
0.020 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
0.851 | 0.200 | 10 | 102832492 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 |
|
0.020 | 1.000 | 2 | 2012 | 2019 | |||||||
|
0.882 | 0.160 | 15 | 80424141 | intron variant | G/A | snv | 0.27 |
|
0.020 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
0.790 | 0.200 | 2 | 31526224 | missense variant | C/T | snv | 2.3E-04 | 1.1E-04 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | |||||||
|
0.882 | 0.160 | 15 | 80426396 | intron variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.827 | 0.160 | 11 | 32392031 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.160 | 9 | 124493083 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 9 | 124500125 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 |