| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 41042015 | intron variant | -/C | ins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1 | 175142624 | intron variant | -/A | ins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1 | 11782952 | intron variant | T/- | del | 1.0E-01 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 143133400 | intron variant | AG/- | del | 0.27 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
15 | 74918801 | downstream gene variant | -/CA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
7 | 100899019 | upstream gene variant | -/TA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
12 | 94298853 | intron variant | AAGA/- | delins | 4.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 16269264 | intron variant | -/CTGT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
14 | 91925128 | intron variant | ATCAA/- | delins | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 114037712 | intergenic variant | G/- | delins | 0.14 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
8 | 8750340 | intron variant | GT/- | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
3 | 158119720 | intron variant | TTAT/- | delins | 1.4E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 11818105 | intron variant | AAAA/-;AAA;AAAAA;AAAAAA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
20 | 10507905 | intron variant | TA/-;TATA;TATATA;TATATATA;TATATATATA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
17 | 42343456 | intron variant | TTTTTTTTTTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT | delins | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
21 | 43586730 | intron variant | A/- | delins | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
6 | 117495189 | intron variant | CA/-;CACA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
8 | 9519301 | intergenic variant | T/-;TT;TTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
12 | 20196697 | intergenic variant | T/-;TT;TTT;TTTT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
12 | 112073262 | intron variant | CACACACACA/-;CA;CACA;CACACA;CACACACA;CACACACACACA;CACACACACACACA;CACACACACACACACA;CACACACACACACACACA;CACACACACACACACACACA | delins | 6.3E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 80247467 | intergenic variant | TT/-;T;TTT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
3 | 27449048 | intron variant | T/-;TT;TTT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
7 | 27240226 | intron variant | -/AAAACA;AACA | delins | 0.91 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
15 | 48651693 | non coding transcript exon variant | TTTTTTTTTTTT/-;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.700 | 1.000 | 10 | 2009 | 2019 |