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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.200 | 13 | 32394934 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 13 | 32338329 | frameshift variant | -/TGCT | delins | 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 | |||||||
|
4 | 0.882 | 0.200 | 13 | 32363370 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 13 | 32394724 | missense variant | T/C | snv | 2.9E-04 | 2.5E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 13 | 32339425 | missense variant | A/C | snv | 2.2E-04 | 2.2E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 13 | 32338925 | missense variant | T/G | snv | 2.4E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 13 | 32332863 | missense variant | A/G;T | snv | 2.5E-04 | 2.0E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 13 | 32370958 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 13 | 32333295 | stop gained | CGA/TTT | mnv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 13 | 32339550 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 13 | 32339717 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 13 | 32333388 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 13 | 32331022 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 13 | 32337635 | stop gained | A/C;T | snv | 4.4E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 13 | 32337642 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 13 | 32337647 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 13 | 32337996 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 13 | 32329480 | frameshift variant | -/GATA | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 13 | 32338632 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 13 | 32340621 | frameshift variant | -/GCAT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 13 | 32355233 | frameshift variant | -/G | ins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 13 | 32363179 | frameshift variant | ATGATACGGAAAT/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 13 | 32398403 | frameshift variant | -/ATTT | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 13 | 32338175 | frameshift variant | AAGA/- | del | 7.0E-06 | 0.700 | 0 |