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 | 0.120 | 16 | 89745026 | frameshift variant | -/C | delins | 1.2E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.120 | 16 | 89742841 | frameshift variant | GTTTT/- | delins | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
3 | 0.882 | 0.120 | 17 | 43095919 | splice acceptor variant | ACAC/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 16 | 89799192 | frameshift variant | -/GACT | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 89738880 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89738884 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89740037 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89744972 | frameshift variant | GGCC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89746836 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89752211 | frameshift variant | AACT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89764899 | frameshift variant | CTCTTTC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89765001 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89770604 | frameshift variant | AGAAAGAC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89778826 | frameshift variant | -/CGGGA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89783096 | frameshift variant | TG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89810715 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 9 | 95171081 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89739243 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89771740 | frameshift variant | -/GCTGCTG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 16 | 89761961 | frameshift variant | -/A | delins | 2.1E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 16 | 89795995 | frameshift variant | GT/- | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 89782870 | frameshift variant | C/- | delins | 4.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 16 | 89775797 | frameshift variant | -/G | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 89799596 | splice donor variant | ACTTA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 16 | 89746848 | missense variant | T/C;G | snv | 8.7E-05 | 0.800 | 1.000 | 17 | 1997 | 2015 |