| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 17 | 43091614 | frameshift variant | AA/- | del |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 13 | 32362574 | stop gained | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 13 | 32333284 | frameshift variant | A/-;AA | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 13 | 32340837 | frameshift variant | ACAA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 13 | 32332429 | frameshift variant | A/-;AA | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 22 | 28710005 | splice donor variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 21 | 34738904 | upstream gene variant | T/C | snv | 2.5E-02 |
|
0.710 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.080 | 20 | 34000289 | intron variant | T/C;G | snv |
|
0.710 | < 0.001 | 1 | 2012 | 2012 | |||||||||
|
0.807 | 0.240 | 17 | 50196930 | intron variant | T/A;G | snv |
|
0.710 | 0.500 | 1 | 2007 | 2011 | |||||||||
|
0.851 | 0.200 | 2 | 201258707 | intron variant | C/T | snv | 0.57 |
|
0.710 | 0.500 | 1 | 2017 | 2019 | ||||||||
|
0.925 | 0.080 | 6 | 1318643 | downstream gene variant | C/T | snv | 0.58 |
|
0.710 | 0.667 | 2 | 2013 | 2015 | ||||||||
|
0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 |
|
0.730 | 0.800 | 2 | 2013 | 2018 | ||||||||
|
0.641 | 0.480 | 11 | 1995678 | non coding transcript exon variant | G/A | snv | 0.20 |
|
0.740 | 0.800 | 1 | 2016 | 2019 | ||||||||
|
0.882 | 0.160 | 6 | 127279485 | intron variant | G/A | snv | 0.73 |
|
0.740 | 0.800 | 1 | 2008 | 2012 | ||||||||
|
0.649 | 0.320 | 5 | 1295234 | upstream gene variant | A/G | snv | 0.25 |
|
0.740 | 0.800 | 1 | 2016 | 2018 | ||||||||
|
0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv |
|
0.770 | 0.818 | 4 | 2009 | 2017 | |||||||||
|
0.882 | 0.080 | 21 | 15148511 | intergenic variant | G/A | snv | 0.32 |
|
0.730 | 0.833 | 3 | 2012 | 2017 | ||||||||
|
0.716 | 0.360 | 8 | 127343372 | intron variant | A/G | snv | 0.43 |
|
0.800 | 0.864 | 4 | 2007 | 2017 | ||||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
0.740 | 0.875 | 4 | 2013 | 2017 | |||||||
|
0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 |
|
0.850 | 0.875 | 4 | 2010 | 2016 | |||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.900 | 0.895 | 2 | 2003 | 2017 | ||||||||
|
0.807 | 0.120 | 17 | 54979110 | intron variant | G/A | snv | 0.29 |
|
0.770 | 0.900 | 3 | 2009 | 2017 | ||||||||
|
0.776 | 0.200 | 14 | 68567965 | intron variant | C/T | snv | 0.16 |
|
0.770 | 0.909 | 4 | 2009 | 2017 | ||||||||
|
0.925 | 0.080 | 10 | 121580797 | intron variant | C/A;T | snv |
|
0.790 | 0.909 | 2 | 2009 | 2018 | |||||||||
|
0.790 | 0.280 | 11 | 1887776 | intron variant | T/C | snv | 0.26 |
|
0.800 | 0.938 | 4 | 2007 | 2017 |