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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.923 | 39 | 2002 | 2019 | |||||||||
|
2 | 201272639 | frameshift variant | -/C | delins |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.925 | 0.040 | 4 | 87975555 | non coding transcript exon variant | -/G | delins |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.160 | 9 | 104094409 | 5 prime UTR variant | -/GC | ins | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
5 | 76715788 | intron variant | -/GGCCGCGGGAAGC;GGCCGCGGGAAGCGGCCGCGGGAAGC | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
0.776 | 0.160 | 19 | 40798690 | intron variant | -/TACT | delins |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.040 | 17 | 7673821 | frameshift variant | -/TCCCA | delins |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 10 | 87931195 | intron variant | -/TCTTA | delins |
|
0.030 | 1.000 | 3 | 2014 | 2016 | |||||||||
|
0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins |
|
0.020 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
17 | 7668169 | intron variant | -/TGGCCG | delins |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
0.882 | 0.040 | 8 | 105437494 | intron variant | -/TTTTCT | delins | 0.43 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 17 | 43057122 | frameshift variant | A/- | del |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 |
|
0.060 | 1.000 | 6 | 2002 | 2017 | |||||||
|
0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 |
|
0.050 | 0.600 | 5 | 2011 | 2017 | ||||||||
|
0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 |
|
0.040 | 1.000 | 4 | 2015 | 2019 | ||||||||
|
0.807 | 0.120 | 11 | 48123823 | missense variant | A/C | snv | 0.17 | 0.15 |
|
0.030 | 0.333 | 3 | 2008 | 2019 | |||||||
|
1.000 | 0.040 | 17 | 72124410 | 3 prime UTR variant | A/C | snv | 0.41 | 0.36 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
20 | 46016407 | 3 prime UTR variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.776 | 0.120 | 2 | 29220830 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
4 | 86701433 | missense variant | A/C | snv | 8.1E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
0.790 | 0.160 | 2 | 38075270 | missense variant | A/C | snv | 4.3E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
8 | 18223142 | 3 prime UTR variant | A/C | snv | 0.64 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 15 | 52112665 | missense variant | A/C | snv | 0.41 | 0.48 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |