| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 |
|
0.030 | 1.000 | 3 | 2019 | 2020 | ||||||||
|
1.000 | 0.080 | 3 | 41233836 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 3 | 179234358 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 2 | 211380365 | 3 prime UTR variant | -/AAAATAGGATTG | delins |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.080 | 2 | 219058688 | non coding transcript exon variant | -/AAG | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 13 | 30459175 | 3 prime UTR variant | -/ATTA | delins | 0.28 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.790 | 0.320 | 6 | 29830804 | 3 prime UTR variant | -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT | ins |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.857 | 14 | 2005 | 2017 | |||||||||
|
1.000 | 0.080 | 5 | 1294548 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.160 | 7 | 94431047 | 3 prime UTR variant | -/GCTGTCC;GTTG;GTTGTCC;GTTGTGC | ins |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.827 | 0.200 | 22 | 40410091 | 3 prime UTR variant | -/GTCT;GTCTGTCT | delins |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins |
|
0.020 | 1.000 | 2 | 2009 | 2014 | |||||||||
|
1.000 | 0.080 | 1 | 64833868 | 3 prime UTR variant | -/TTAA;TTAATTAA | delins |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.827 | 0.200 | 3 | 33798239 | intron variant | -/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 5 | 112828923 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.776 | 0.160 | 6 | 8653014 | non coding transcript exon variant | A/C | snv | 0.44 |
|
0.020 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.882 | 0.200 | 11 | 66063028 | missense variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 17 | 42314141 | 3 prime UTR variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.160 | 12 | 53991163 | intron variant | A/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 15 | 100541858 | intron variant | A/C | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 22 | 39142209 | intron variant | A/C | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 2 | 191066738 | intron variant | A/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 9 | 21439077 | upstream gene variant | A/C | snv | 9.5E-03 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.120 | 7 | 20164512 | intron variant | A/C | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |