Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 16 | 2092534 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 16 | 2094014 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.080 | 16 | 2111276 | inframe insertion | -/GTG | ins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 6 | 51847966 | stop gained | G/T | snv | 2.0E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
11 | 0.790 | 0.360 | 4 | 15587929 | splice donor variant | G/- | delins | 1.9E-04 | 0.700 | 0 | |||||||
|
10 | 0.851 | 0.280 | 12 | 88077790 | frameshift variant | T/- | delins | 2.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 16 | 2110321 | stop gained | C/A;G;T | snv | 8.0E-06; 8.0E-06 | 0.700 | 0 | |||||||||
|
3 | 0.925 | 0.240 | 16 | 2114808 | missense variant | G/A;C | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.240 | 3 | 132689264 | splice acceptor variant | CT/- | del | 2.6E-04 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 6 | 52058355 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.240 | 12 | 76347023 | frameshift variant | CTAA/- | delins | 4.0E-06 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.120 | 20 | 10412556 | frameshift variant | AG/- | delins | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
6 | 1.000 | 0.160 | 12 | 88093977 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 16 | 2090777 | stop gained | C/T | snv | 4.1E-06 | 0.700 | 0 | |||||||||
|
2 | 1.000 | 0.120 | 16 | 2097376 | stop gained | C/A;T | snv | 4.1E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.200 | 6 | 52043636 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 17 | 58208542 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 5 | 134893572 | inframe deletion | AGTTTGGCCCCTCAC/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.280 | 5 | 134874531 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 19 | 45227667 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 17 | 58216664 | splice donor variant | A/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 11 | 61366050 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.120 | 12 | 88129872 | frameshift variant | AA/- | delins | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.160 | 14 | 58467887 | missense variant | T/A;C;G | snv | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.160 | X | 13756600 | frameshift variant | C/- | delins | 0.700 | 0 |