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 | 7674232 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 17 | 7673789 | stop gained | A/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673830 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674247 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673839 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674973 | splice acceptor variant | TAA/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675152 | frameshift variant | CGGGCGGGGGTGT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674197 | inframe deletion | ATG/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.240 | 17 | 7673700 | splice donor variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 17 | 7675098 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 22 | 28695709 | splice donor variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7668202 | intron variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673535 | frameshift variant | CTGA/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673749 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673763 | frameshift variant | TCCTCTGTGC/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673773 | frameshift variant | GCCG/CT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674221 | missense variant | GG/AA | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674239 | frameshift variant | GGAACTGTTA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 7674292 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675048 | splice region variant | CATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCAC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 7675113 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675997 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676004 | frameshift variant | -/TTGGCTGTCCCAGAATGCAAGAAGCCCAGAC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676074 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676212 | frameshift variant | -/T | delins | 0.700 | 0 |