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 | 0.440 | X | 133753919 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 11 | 32428031 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 11 | 32434769 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
11 | 0.763 | 0.200 | 11 | 32392020 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.320 | 11 | 32392717 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 11 | 32434815 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 133754153 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 133536162 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 16 | 67616807 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 232334720 | frameshift variant | GC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 11 | 32427961 | inframe deletion | TAG/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.280 | 11 | 32428598 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.280 | 11 | 32434883 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.280 | 11 | 32435027 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 133753860 | frameshift variant | CTGGGTCATAATAAGCTTGGGGAAAT/TGCAAG | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.280 | 11 | 32434708 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 32434889 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 133596542 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 133661836 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
11 | 0.752 | 0.440 | 13 | 32379913 | splice region variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.776 | 0.280 | 13 | 32338598 | stop gained | G/A;T | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
10 | 0.763 | 0.320 | 13 | 32370955 | splice acceptor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.320 | 13 | 32319101 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
14 | 0.724 | 0.440 | 13 | 32340037 | stop gained | C/A;G;T | snv | 4.0E-06; 2.0E-05 | 0.700 | 0 | |||||||
|
10 | 0.763 | 0.320 | 13 | 32363369 | missense variant | G/A;C | snv | 7.0E-06 | 0.700 | 0 |