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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 218297998 | intron variant | -/C | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
10 | 97314229 | upstream gene variant | -/CAGGTTCAAGCGA | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
9 | 136425872 | downstream gene variant | CG/- | del | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
13 | 108308033 | 3 prime UTR variant | GCTG/- | del | 2.0E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 159313100 | downstream gene variant | TTTTTTTTTTTTTT/-;TTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTT | delins | 7.4E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
6 | 7138928 | intron variant | T/- | delins | 0.67 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 128603031 | intergenic variant | G/- | delins | 0.89 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 77396337 | intron variant | C/- | delins | 0.54 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 5279909 | upstream gene variant | TAAA/-;TAAATAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
17 | 29634544 | intron variant | ATTATTATT/-;ATT;ATTATT;ATTATTATTATT;ATTATTATTATTATT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 168850753 | intron variant | TCTCTGGAAT/-;TCTCTGGAATTCTCTGGAAT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
11 | 122629782 | regulatory region variant | TT/-;T;TTT;TTTTT | delins | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 8460428 | intron variant | AAG/- | delins | 0.16 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 135328483 | intron variant | TGCCATAAACCATAGCCATAG/-;TGCCATAAACCATAGCCATAGTGCCATAAACCATAGCCATAG | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
18 | 23571654 | intron variant | AAAA/-;A;AA;AAA;AAAAA;AAAAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
6 | 87128241 | intergenic variant | GAT/-;GATGAT | delins | 0.47 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
13 | 28044450 | intron variant | AAA/-;A;AA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
6 | 135099930 | intron variant | TT/-;T;TTT;TTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
4 | 144168712 | intron variant | C/- | delins | 0.39 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 224394506 | intron variant | TT/-;T;TTT;TTTTT;TTTTTT;TTTTTTT | delins | 0.19 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 40007650 | downstream gene variant | AA/-;A;AAA | delins | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 10297604 | downstream gene variant | AAA/-;A;AA;AAAA;AAAAA;AAAAAA | delins | 0.38 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 41086523 | intron variant | TTTT/-;TTT;TTTTT;TTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
4 | 54632615 | intergenic variant | GG/-;G | delins | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 6 | 90291614 | intron variant | AAAA/-;AA;AAA;AAAAA | delins | 0.32 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |