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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.200 | 16 | 16219834 | stop gained | C/T | snv | 7.1E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.200 | 16 | 16182506 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.925 | 0.200 | 16 | 16173393 | stop gained | G/C;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
5 | 0.925 | 0.200 | 16 | 16157675 | frameshift variant | -/GGAT | delins | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.200 | 16 | 16161437 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 16 | 16163129 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.200 | 16 | 16177554 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.200 | 16 | 16178830 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
8 | 0.925 | 0.200 | 16 | 16182486 | frameshift variant | TCTC/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.200 | 16 | 16182896 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.200 | 16 | 16187213 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.200 | 16 | 16188868 | frameshift variant | TGGGCCTTG/C | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.200 | 16 | 16198019 | splice acceptor variant | CCAGAGATAGACGAAGCAGACCACGATCCAGACGAGAGGCAGCCACAGCCCGTTGAGGTAGAGGACGCTCTCGGTCAGCCGCTGCACGTCCACGGACACCAGATTGACCACATCACCCACCGCACTGGCCTTTCTGGAGCCGCTGGACAGAGCCAGGACCTG/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.200 | 16 | 16212248 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.200 | 16 | 16221822 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.280 | 16 | 16223398 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.200 | 16 | 16219935 | missense variant | C/T | snv | 3.0E-04 | 0.700 | 0 | |||||||
|
12 | 0.827 | 0.240 | 16 | 16163087 | missense variant | G/A | snv | 4.4E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
13 | 0.851 | 0.320 | 16 | 16154899 | missense variant | G/A;T | snv | 8.2E-05 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.200 | 16 | 16190280 | stop gained | C/A;G | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.200 | 16 | 16165721 | missense variant | C/G;T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.200 | 16 | 16202057 | inframe deletion | CTGTACATGTTCTGCTGCTCAAACAGCGTTTGC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 16 | 16219688 | splice region variant | C/A;T | snv | 3.6E-05; 2.6E-02 | 0.700 | 0 | |||||||
|
11 | 0.882 | 0.280 | 16 | 16163086 | missense variant | C/G;T | snv | 7.6E-05 | 0.700 | 0 | |||||||
|
9 | 0.925 | 0.200 | 16 | 16159505 | missense variant | C/G | snv | 0.700 | 0 |