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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.925 | 0.160 | 5 | 88883309 | 5 prime UTR variant | GAGGAGGAGGAAGA/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 73173591 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 73173636 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 44349518 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 44350262 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 44350501 | stop gained | -/TGTGAAGACAGGGTGCACTGCTGTC | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 44350539 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 44351102 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 44351795 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 44352373 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 46010403 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 46018672 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 44352047 | stop gained | C/A;T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 17 | 44350263 | frameshift variant | CAGT/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 17 | 44350801 | splice donor variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.776 | 0.120 | 14 | 73170945 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.160 | 14 | 73192786 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 46010415 | intron variant | A/G | snv | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.120 | 14 | 73186860 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.120 | 17 | 46014286 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 46010375 | synonymous variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 46010416 | intron variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 44351081 | stop gained | TG/-;TGTG | delins | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.160 | 14 | 73219161 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 46010413 | intron variant | T/C | snv | 0.700 | 0 |