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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 5 | 112835093 | stop gained | T/A;C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 5 | 112838605 | frameshift variant | GCCCATA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112827249 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 5 | 112840494 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112828967 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112815531 | frameshift variant | TTGAGTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112837691 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112838229 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112837690 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112838503 | frameshift variant | TG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112837726 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 5 | 112780782 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112838832 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 5 | 112821953 | stop gained | C/A;G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 5 | 112837690 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112821985 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112835083 | frameshift variant | AACA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112838779 | frameshift variant | AA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 112819276 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112834939 | splice acceptor variant | TTTCTTACTAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112839951 | frameshift variant | CCTAAAA/AAT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112839998 | frameshift variant | GCAAGCTGCAGTAAA/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112818987 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 112835163 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112827225 | frameshift variant | C/- | del | 0.700 | 0 |