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 | 1.000 | 0.120 | 17 | 7676392 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676550 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7670658 | stop gained | TGAGTTCCA/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 7673579 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673695 | splice donor variant | CCTCGCTTA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673778 | frameshift variant | TC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673799 | frameshift variant | AC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 7674245 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674249 | frameshift variant | ACACATGTAGTTG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675076 | frameshift variant | -/GGTGGGGGCAGCGCCTCAC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675111 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675119 | stop gained | GC/AG | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675234 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 7676059 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676218 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676229 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
22 | 0.695 | 0.440 | 17 | 7673823 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674249 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
31 | 0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.120 | 17 | 7673772 | missense variant | C/G;T | snv | 4.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.200 | 17 | 7676003 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 17 | 7673609 | splice acceptor variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 7675101 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
15 | 0.742 | 0.440 | 17 | 7674256 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 17 | 7673579 | stop gained | G/A;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 |