| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 118333210 | intergenic variant | -/A | delins | 0.10 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 27240226 | intron variant | -/AAAACA;AACA | delins | 0.91 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 52695764 | non coding transcript exon variant | -/ATTA | delins | 1.5E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
15 | 41042015 | intron variant | -/C | ins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1 | 10737371 | intron variant | -/C | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
15 | 74918801 | downstream gene variant | -/CA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
11 | 100662632 | upstream gene variant | -/CTAT | ins | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 152018839 | intron variant | -/GAA | delins | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 107220703 | intergenic variant | -/GT | delins | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 65057022 | intron variant | -/GTGGATGCAGCAG;TGGATGCAGCAG;TGGATGCGGCAG;TGTATGCAGCAG | delins | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 4889421 | intron variant | -/T;TT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
5 | 158894394 | intron variant | -/TAAA | ins | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 190644147 | intron variant | -/TGAA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
8 | 125498975 | intron variant | A/- | delins | 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 164656556 | intron variant | A/- | delins | 0.48 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
8 | 32533038 | intron variant | A/-;AA;AAA;AAAA;AAAAAA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
11 | 89491285 | 5 prime UTR variant | A/C | snv | 0.69 | 0.61 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
8 | 63589186 | non coding transcript exon variant | A/C | snv | 0.25 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1.000 | 0.040 | 15 | 74833304 | downstream gene variant | A/C | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
2 | 42940738 | intergenic variant | A/C | snv | 5.7E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
18 | 721563 | downstream gene variant | A/C | snv | 0.33 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
14 | 70414772 | intron variant | A/C | snv | 6.6E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
2 | 190731124 | intergenic variant | A/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 197172123 | intron variant | A/C | snv | 0.28 | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
12 | 54049934 | intron variant | A/C | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |