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 | 2 | 178535728 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 178550977 | frameshift variant | CTTGTCATAAT/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 178558000 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||||
|
1 | 2 | 178575386 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 178577230 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 178588040 | frameshift variant | CTGCA/- | del | 0.700 | 0 | ||||||||||
|
1 | 2 | 178604300 | splice acceptor variant | CCAGATCTAGAAATTAGA/AG | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 178608282 | stop gained | A/T | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 178620846 | frameshift variant | GATGTAT/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 178779110 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 178792176 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 178562076 | stop gained | G/A;T | snv | 4.1E-06 | 0.700 | 0 | |||||||||
|
1 | 2 | 178559741 | frameshift variant | AGTAC/- | del | 0.700 | 0 | ||||||||||
|
2 | 2 | 178782573 | missense variant | C/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 2 | 178620285 | stop gained | G/A;T | snv | 4.9E-06 | 0.700 | 0 | |||||||||
|
2 | 2 | 178591326 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||||
|
2 | 2 | 178609683 | splice donor variant | C/G | snv | 0.700 | 0 | ||||||||||
|
2 | 2 | 178593566 | splice donor variant | A/G | snv | 1.4E-05 | 0.700 | 0 | |||||||||
|
2 | 2 | 178560622 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.160 | 2 | 178591418 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 2 | 178598969 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.040 | 2 | 178578066 | stop gained | G/A;T | snv | 4.0E-06; 5.6E-05 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.040 | 2 | 178549998 | frameshift variant | -/T | delins | 8.1E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.040 | 2 | 178616928 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 178559309 | splice donor variant | A/T | snv | 4.4E-06 | 4.9E-05 | 0.700 | 0 |