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 | 0.851 | 0.120 | 17 | 68522864 | stop gained | C/T | snv | 0.710 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.120 | 17 | 68515481 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 68515508 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 68515523 | stop gained | C/G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 68525886 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 68528886 | stop gained | GG/CT | mnv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 17 | 68525842 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 68522754 | splice donor variant | AGGAGGCAAAACAGATTCAGAATCTGCAGAAAGCAGGCACTCGTACAGACTCAAGGGAGGATGAGATTTCTCCTCCTCCACCCAACCCAGTGGTTAAAGGTAGGAGGCGACGAGGTGCTATCAGCGCTGAGGTCTACACGGAGGAAGATGCGGCATCCTATGTTAGAAAGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 68522927 | splice donor variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 68525913 | splice donor variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 68525826 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.120 | 17 | 68515480 | frameshift variant | GCGCTGCTCAA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 68515497 | frameshift variant | CTATT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 68515538 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 68524064 | frameshift variant | TG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 68525820 | frameshift variant | TTAT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 68525770 | frameshift variant | AA/CAC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 68525896 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 68527841 | frameshift variant | -/AA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 68528946 | frameshift variant | -/A | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 68522754 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 68525745 | splice acceptor variant | CACTTTAG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 17 | 68527824 | splice acceptor variant | TTTTTA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 68528994 | splice region variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 68515400 | start lost | A/G | snv | 0.700 | 0 |