| 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 | 0.040 | 16 | 86567709 | missense variant | C/T | snv | 0.810 | 1.000 | 4 | 2000 | 2005 | |||||
|
2 | 0.925 | 0.040 | 16 | 86567697 | missense variant | G/A | snv | 0.710 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.040 | 16 | 86567457 | missense variant | A/C;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 16 | 86567632 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 16 | 86567534 | frameshift variant | -/CT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 16 | 86567543 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 16 | 86567624 | frameshift variant | GCATCTACCAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 16 | 86567696 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 16 | 86567840 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 16 | 86567921 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 16 | 86567937 | protein altering variant | CGGACGCCCCCAAGGAGGCCGAGAAGAAGGTGGTGATCAAGAGCGAGGCGGCGTCCCCGGCGCTGCCGGTCATCACCAAG/ACAAA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 16 | 86568249 | frameshift variant | ACGCCGCC/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 16 | 86568423 | frameshift variant | -/GGCC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 16 | 86568540 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 16 | 86568593 | stop gained | C/T | snv | 0.700 | 0 |