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 | 9 | 95240655 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 16 | 89767196 | frameshift variant | G/- | del | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 89773304 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89764919 | stop gained | G/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 15 | 89314671 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 35077096 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 3 | 10067310 | stop gained | C/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 3608906 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89805345 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89778817 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89742930 | frameshift variant | -/A | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 16 | 89740803 | splice donor variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 89795941 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 16 | 89746890 | missense variant | T/C | snv | 2.5E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 2 | 58163447 | frameshift variant | AGAA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 10039339 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 95111394 | coding sequence variant | -/CTCTGCAAGCTCCTCTCAGCCCCCCAGAGCCCACCCCAAACACATGCAGTGGGGCCTGCTACCCACCATAGTCTGTGCTCTCTGCT | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 9 | 95111462 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 95126528 | splice donor variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 95171114 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89749884 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 16 | 89771722 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 95172103 | frameshift variant | TT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 3591189 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 15 | 89312913 | frameshift variant | A/- | delins | 0.700 | 0 |