| 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 | 0.080 | 14 | 70937529 | intron variant | -/A | delins | 4.2E-02 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 2 | 211380365 | 3 prime UTR variant | -/AAAATAGGATTG | delins |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.750 | 20 | 2006 | 2018 | |||||||||
|
0.851 | 0.120 | 3 | 9765885 | splice acceptor variant | -/C | delins |
|
0.020 | 0.500 | 2 | 2005 | 2009 | |||||||||
|
0.790 | 0.080 | 5 | 96794169 | intron variant | -/C | delins | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 1 | 45331514 | frameshift variant | -/CC | delins | 1.6E-04 | 2.7E-04 |
|
0.700 | 1.000 | 6 | 2004 | 2012 | |||||||
|
0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 17 | 65537563 | frameshift variant | -/CGCGGGAGGCAGC | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 8 | 56073724 | frameshift variant | -/T | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.776 | 0.080 | 13 | 33518027 | intron variant | -/TAA | delins | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.160 | 19 | 40798690 | intron variant | -/TACT | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.807 | 0.280 | 5 | 80654344 | intron variant | -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT | ins | 0.51 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins |
|
0.020 | 0.500 | 2 | 2015 | 2018 | |||||||||
|
1.000 | 0.080 | 2 | 110638153 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 3 | 12392683 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 |
|
0.900 | 1.000 | 19 | 2008 | 2019 | ||||||||
|
1.000 | 0.080 | 7 | 140781620 | missense variant | A/C | snv |
|
0.800 | 1.000 | 10 | 2006 | 2015 | |||||||||
|
0.827 | 0.080 | 9 | 6365683 | intergenic variant | A/C | snv | 0.34 |
|
0.050 | 0.800 | 5 | 2007 | 2019 | ||||||||
|
0.807 | 0.120 | 11 | 48123823 | missense variant | A/C | snv | 0.17 | 0.15 |
|
0.730 | 0.667 | 3 | 2005 | 2019 | |||||||
|
0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 |
|
0.030 | 1.000 | 3 | 2014 | 2017 | ||||||||
|
0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 |
|
0.030 | 1.000 | 3 | 2014 | 2019 | ||||||||
|
0.790 | 0.080 | 1 | 183112059 | intron variant | A/C | snv | 0.37 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
0.776 | 0.200 | 16 | 13919809 | upstream gene variant | A/C | snv | 0.27 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.790 | 0.240 | 2 | 233693556 | missense variant | A/C | snv | 0.35 | 0.34 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.807 | 0.080 | 13 | 73064505 | intron variant | A/C | snv | 5.8E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |