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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 10236794 | intergenic variant | TTTTTTTTTT/-;TTT;TTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT | delins | 0.21 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
20 | 23619167 | intergenic variant | TTTTTTT/-;TTTTT;TTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
3 | 52726969 | intron variant | TTTTTT/-;TT;TTT;TTTT;TTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT | delins | 0.44 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 135879982 | upstream gene variant | TTTTTT/-;T;TT;TTTT;TTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
3 | 46597002 | intron variant | TTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTTT;TTTTTTTTTTTTTT | delins | 0.54 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 46864527 | intron variant | TTTTT/-;T;TT;TTT;TTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTTTTTTT | delins | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 76109246 | intron variant | TTTT/-;TT;TTT;TTTTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
12 | 101818377 | intron variant | TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTTTTTT | delins | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 28391881 | intron variant | TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTTT;TTTTTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
3 | 49672480 | upstream gene variant | TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
5 | 177410301 | intron variant | TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTTTTTT | delins | 0.52 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 31107825 | downstream gene variant | TTT/-;TT;TTTTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
14 | 74121726 | intron variant | TTT/-;T;TT;TTTT;TTTTT;TTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 33795960 | intron variant | TTT/-;T;TT;TTTT;TTTTT;TTTTTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 159974255 | intron variant | TTCTT/-;TTCTTTTCTT | delins | 6.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
22 | 42719514 | intron variant | TTCT/-;TTCTTTCT | delins | 0.41 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 186735642 | intron variant | TTAA/-;TTAATTAA | delins | 8.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 27647575 | intron variant | TTA/-;TTATTA;TTATTATTA;TTATTATTATTA;TTATTATTATTATTA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
3 | 190627310 | splice acceptor variant | TT/-;T;TTT;TTTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1 | 160483182 | downstream gene variant | TT/-;T;TTT;TTTTTTTT | delins | 0.80 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 1765144 | intron variant | TT/-;T;TTT;TTTT;TTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
3 | 132656496 | intron variant | TT/-;T;TTT;TTTT;TTTTT;TTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 122803985 | intron variant | TT/-;T;TTT;TTTT;TTTTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
16 | 72130022 | intron variant | TT/-;T;TTT;TTTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1 | 117427159 | intron variant | TT/-;T;TTT;TTTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 |