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 | 0.120 | 10 | 89014163 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 89014259 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 10 | 89008915 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.160 | 10 | 89014191 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 10 | 89014251 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 89014182 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 10 | 89014220 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 89012083 | splice donor variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 10 | 89014221 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 89007732 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 89007838 | splice donor variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 89011997 | splice acceptor variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 10 | 89003071 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 89014409 | frameshift variant | -/AAAATTCAAACTTCAGAAAT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 89014134 | frameshift variant | -/T | ins | 0.700 | 0 |