| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 106464462 | upstream gene variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
19 | 35763280 | intron variant | -/A | delins | 0.10 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 196682994 | intron variant | -/A | delins | 0.69 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 154426920 | intron variant | -/A | ins | 3.9E-05 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 196662874 | intron variant | -/A;AA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 32640505 | intron variant | -/A;GAA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
7 | 95308384 | intron variant | -/AA | delins | 0.42 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 103098337 | intron variant | -/AAA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
11 | 18271957 | downstream gene variant | -/ACTTA | delins | 0.82 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 35857481 | intron variant | -/AGAAG | delins | 0.41 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 96787817 | intron variant | -/AT;ATAT | delins | 0.63 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 98773647 | intron variant | -/AT;CAT | ins | 0.91 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
16 | 1227888 | intron variant | -/C | ins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
5 | 177413083 | intron variant | -/C | delins | 0.56 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
16 | 69795259 | intron variant | -/CA | ins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
9 | 136213967 | intron variant | -/CA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 31422584 | intron variant | -/CA;CACA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 306687 | intron variant | -/CACA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
4 | 186235350 | intron variant | -/CCTAACTTCATCACCTT;CTAACTTCATCACCTT;TCTAACTT;TCTAACTTCATCACCTT;TTCTAACTTCATCACCTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
10 | 104245565 | intron variant | -/CCTACAGGATGCAGGACTGGCAGGCAGCTCCACCTGCAGCCC;CCTACGGGATGCAGGACTGGCAGGCAGCTCCACCTGCAGCCC;CCTATGGGATGCAGGACTGGCAGGCAGCTCCACCTGCAGCCC;GCTACGGGATGCAGGACTGGCAGGCAGCTCCACCTGCAGCCC | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
19 | 44914381 | 5 prime UTR variant | -/CGTT | delins | 0.23 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 196692600 | intron variant | -/CT | delins | 0.63 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 102356208 | non coding transcript exon variant | -/CT | delins | 7.6E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 58309246 | inframe insertion | -/CTCTTCCTC | delins | 4.3E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 7716791 | intergenic variant | -/CTGGGGGC | ins |
|
0.700 | 1.000 | 1 | 2018 | 2018 |