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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.120 | X | 119841185 | frameshift variant | CT/- | delins | 0.700 | 1.000 | 3 | 2007 | 2012 | |||||
|
5 | 0.882 | 0.320 | 18 | 55228877 | missense variant | C/A | snv | 0.700 | 1.000 | 2 | 2011 | 2014 | |||||
|
8 | 0.882 | 0.200 | 7 | 5987033 | frameshift variant | GC/ACT | delins | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
9 | 0.851 | 0.240 | 12 | 21913005 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.925 | 0.200 | 5 | 177283796 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.851 | 0.160 | 11 | 1442607 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.827 | 0.200 | 15 | 48513656 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.240 | 15 | 48415571 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.120 | 15 | 48534099 | frameshift variant | CATT/- | delins | 0.700 | 0 | ||||||||
|
29 | 0.742 | 0.280 | 6 | 33438873 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
20 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
15 | 0.732 | 0.200 | 15 | 48420752 | missense variant | A/G;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
11 | 0.776 | 0.280 | 11 | 66530934 | frameshift variant | TG/- | del | 1.4E-05 | 0.700 | 0 | |||||||
|
43 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 0.700 | 0 |