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 | X | 101386057 | splice region variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 101375283 | start lost | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 101375248 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 101375242 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 101360626 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 101360581 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 101356858 | stop gained | G/A;T | snv | 1.1E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.240 | X | 101356060 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 101353213 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 101353196 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 101360121 | frameshift variant | ATAGTTAC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 101362171 | splice donor variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 101374612 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 101354629 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.120 | X | 101358408 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 101360087 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 101360617 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 101360691 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 101360701 | frameshift variant | AC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 101362172 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 101362172 | frameshift variant | -/ATGTAGCT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 101356163 | stop gained | G/A;T | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | X | 101356107 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 101353940 | frameshift variant | AATTTGGA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | X | 101362606 | frameshift variant | TCTG/- | delins | 0.700 | 0 |