| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 7 | 92344194 | intron variant | TTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 7 | 102824786 | intron variant | TTTTTTTTTTT/-;T;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 16 | 71918418 | intron variant | TTTTTTT/-;TTT;TTTT;TTTTT;TTTTTT;TTTTTTTT;TTTTTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 8 | 23622741 | intergenic variant | TTTTTTT/-;TT;TTTT;TTTTT;TTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 2 | 32224803 | intron variant | TTTTT/-;T;TT;TTT;TTTT;TTTTTT;TTTTTTTT | delins | 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 51001425 | intergenic variant | TTTTT/-;T;TT;TTT;TTTT;TTTTTT;TTTTTTT | delins | 0.40 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 10 | 22581150 | intron variant | TTTC/- | delins | 0.97 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 111168155 | 3 prime UTR variant | TTTATGT/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 6 | 149265193 | intron variant | TTT/-;T;TT;TTTT;TTTTT;TTTTTTTTT;TTTTTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 5 | 50899260 | upstream gene variant | TTT/-;T;TT;TTTT;TTTTT;TTTTTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 3 | 141394018 | intron variant | TTT/-;T;TT;TTTT;TTTTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 14 | 91545453 | intergenic variant | TTCT/- | delins | 0.18 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 5 | 50491020 | intergenic variant | TT/-;T;TTT;TTTT;TTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 22 | 40508704 | intron variant | TT/-;T;TTT;TTTT;TTTTTTTT;TTTTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 1 | 45548287 | upstream gene variant | TT/-;T;TTT;TTTT;TTTTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 2 | 24516826 | intron variant | TT/-;T;TTT;TTTT;TTTTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 17 | 30903503 | intron variant | TG/- | delins | 0.25 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 3 | 27290919 | intron variant | TCAAAACA/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 5 | 112032901 | intergenic variant | TAAAA/- | delins | 5.3E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 5 | 59041654 | intron variant | T/G | snv | 6.9E-02 |
|
0.700 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
0.851 | 0.080 | 18 | 26990703 | intron variant | T/G | snv | 0.35 |
|
0.700 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
1.000 | 0.080 | 6 | 151621059 | 3 prime UTR variant | T/G | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 10 | 53506471 | intergenic variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.708 | 0.280 | 1 | 210816167 | intron variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 14 | 56410241 | intron variant | T/G | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |