| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 2 | 145678654 | intron variant | -/C | ins | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 16 | 30966051 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 3 | 17846143 | intron variant | -/T | delins | 0.53 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 8 | 38163492 | 3 prime UTR variant | -/T | delins | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 7 | 1985461 | intron variant | -/TC | delins | 0.57 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 1 | 8364925 | intron variant | A/- | delins | 0.69 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 2 | 161972220 | intron variant | A/- | delins | 0.38 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 7 | 24737471 | intron variant | A/-;AA | delins | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.790 | 0.240 | 15 | 44659104 | frameshift variant | A/-;AA | delins |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 18 | 55081986 | intergenic variant | A/-;AA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 21 | 14869414 | intron variant | A/-;AA;AAA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 8 | 4323090 | intron variant | A/-;AA;AAA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 8 | 142231572 | intron variant | A/C | snv | 0.68 |
|
0.810 | 1.000 | 7 | 2013 | 2019 | ||||||||
|
1.000 | 0.040 | 12 | 67200061 | intergenic variant | A/C | snv | 0.64 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 17178692 | intron variant | A/C | snv | 0.17 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 82184622 | intron variant | A/C | snv | 0.33 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||
|
1.000 | 0.040 | 7 | 105288617 | intron variant | A/C | snv | 0.60 |
|
0.700 | 1.000 | 3 | 2014 | 2019 | ||||||||
|
1.000 | 0.040 | 6 | 119023381 | intron variant | A/C | snv | 0.33 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 235886699 | intron variant | A/C | snv | 0.37 |
|
0.800 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
1.000 | 0.040 | 12 | 2402665 | intron variant | A/C | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 102225731 | intergenic variant | A/C | snv | 5.4E-02 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
1.000 | 0.040 | 6 | 27288323 | intron variant | A/C | snv | 0.33 |
|
0.700 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
0.925 | 0.040 | 2 | 184947213 | intergenic variant | A/C | snv | 0.34 |
|
0.800 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 26332377 | upstream gene variant | A/C | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
1.000 | 0.040 | 7 | 76104888 | intron variant | A/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |