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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | 5 | 88823786 | start lost | C/G | snv | 0.700 | 1.000 | 4 | 2009 | 2013 | |||||
|
1 | 1.000 | 5 | 88804788 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 1.000 | 5 | 88823780 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1.000 | 5 | 88823745 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 5 | 88731903 | splice acceptor variant | T/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 5 | 88749081 | frameshift variant | CCTGCACCAGACG/GTGGAGAC | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 5 | 88731758 | frameshift variant | -/T | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 5 | 88731856 | stop gained | G/C | snv | 0.700 | 0 | |||||||||
|
3 | 1.000 | 5 | 88804743 | missense variant | A/G;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 5 | 88804776 | missense variant | C/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 5 | 88823787 | start lost | A/G;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 5 | 88751881 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 5 | 88730212 | frameshift variant | A/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 5 | 88751988 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
|
5 | 0.925 | 0.160 | 5 | 88804785 | missense variant | C/T | snv | 0.700 | 0 |