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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.120 | 20 | 10412556 | frameshift variant | AG/- | delins | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.160 | 11 | 111840653 | splice donor variant | A/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.827 | 0.240 | 3 | 132689264 | splice acceptor variant | CT/- | del | 2.6E-04 | 0.700 | 0 | |||||||
|
9 | 0.807 | 0.280 | 5 | 134874531 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 5 | 134893572 | inframe deletion | AGTTTGGCCCCTCAC/- | delins | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.160 | X | 13756600 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.200 | 4 | 15516757 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
11 | 0.790 | 0.360 | 4 | 15587929 | splice donor variant | G/- | delins | 1.9E-04 | 0.700 | 0 | |||||||
|
47 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
41 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 1.000 | 0.120 | 16 | 2090140 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 16 | 2090777 | stop gained | C/T | snv | 4.1E-06 | 0.700 | 0 | |||||||||
|
2 | 1.000 | 0.120 | 16 | 2090962 | frameshift variant | AGTGAAGCGGCGCGGGCGGCCGCGCA/TCACTAGCTT | delins | 0.700 | 0 | ||||||||
|
2 | 16 | 2091794 | missense variant | A/G | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.120 | 16 | 2092144 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
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 | 0.120 | 16 | 2097160 | frameshift variant | A/- | del | 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 | ||||||
|
2 | 1.000 | 0.120 | 16 | 2102583 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 16 | 2105412 | frameshift variant | AT/- | delins | 0.700 | 0 | ||||||||
|
1 | 16 | 2105909 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||||
|
5 | 1.000 | 16 | 2106222 | inframe deletion | CTC/- | delins | 0.700 | 0 | |||||||||
|
4 | 0.882 | 0.240 | 16 | 2109266 | inframe deletion | CAC/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 16 | 2109358 | frameshift variant | A/- | del | 0.700 | 0 |