Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.320 | X | 133753628 | missense variant | A/T | snv |
|
0.800 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.925 | 0.440 | X | 133699902 | stop gained | G/A | snv |
|
0.700 | 1.000 | 3 | 2007 | 2014 | |||||||||
|
0.925 | 0.440 | X | 133753919 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.440 | X | 133753919 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | X | 133754153 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | X | 133536162 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.440 | X | 133699902 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | X | 133753860 | frameshift variant | CTGGGTCATAATAAGCTTGGGGAAAT/TGCAAG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | X | 133596542 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | X | 133661836 | frameshift variant | G/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.320 | X | 133753540 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.320 | X | 133536201 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.320 | X | 133596519 | stop gained | G/A;T | snv | 9.8E-05 | 4.8E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.320 | X | 133953181 | frameshift variant | CCCTTAGGGAGAC/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.320 | X | 133692368 | splice donor variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.320 | X | 133953049 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.360 | X | 133536175 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.360 | X | 133536175 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.360 | X | 133536175 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.360 | X | 133536175 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.360 | X | 133536175 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | X | 133986233 | upstream gene variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | X | 133986233 | upstream gene variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 |