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 | 1.000 | 0.200 | 11 | 108325395 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.200 | 11 | 108315895 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 11 | 108310266 | frameshift variant | AT/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 11 | 108343373 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 11 | 108343323 | frameshift variant | TACA/- | delins | 0.700 | 0 | ||||||||
|
1 | 11 | 108325509 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 108329192 | frameshift variant | AA/- | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 108345755 | stop gained | A/T | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.200 | 11 | 108327701 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 11 | 108347309 | frameshift variant | AT/- | del | 8.0E-06 | 0.700 | 0 | |||||||||
|
1 | 11 | 108335844 | splice acceptor variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 11 | 108315830 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.120 | 11 | 108310218 | missense variant | G/C | snv | 1.3E-04 | 1.8E-04 | 0.700 | 0 | ||||||
|
1 | 11 | 108310188 | frameshift variant | GCT/CCTC | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 108310250 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||||
|
1 | 11 | 108310290 | frameshift variant | -/AAAGTAT | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 108312427 | stop gained | G/T | snv | 0.700 | 0 | ||||||||||
|
1 | 11 | 108312448 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.200 | 11 | 108312472 | frameshift variant | A/-;AA | delins | 0.700 | 0 | ||||||||
|
1 | 11 | 108312494 | stop gained | T/C;G | snv | 0.700 | 0 | ||||||||||
|
1 | 11 | 108315843 | stop gained | C/G | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.200 | 11 | 108316048 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 11 | 108316096 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 11 | 108317410 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 108317444 | frameshift variant | C/TT | delins | 0.700 | 0 |