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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.790 | 0.160 | 10 | 87933061 | frameshift variant | -/AAACC | delins | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87960957 | frameshift variant | -/CT;TTCT | ins | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87933057 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87957914 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
12 | 0.763 | 0.160 | 10 | 87965285 | splice acceptor variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.790 | 0.160 | 10 | 87933223 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
8 | 0.790 | 0.160 | 10 | 87952116 | splice acceptor variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.742 | 0.240 | 10 | 87933127 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
12 | 0.763 | 0.200 | 10 | 87925511 | splice acceptor variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.790 | 0.160 | 10 | 87960892 | splice acceptor variant | A/G;T | snv | 5.1E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.790 | 0.160 | 10 | 87952263 | splice region variant | A/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.790 | 0.160 | 10 | 87864506 | frameshift variant | AA/-;AAA | delins | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87933106 | frameshift variant | ACAAT/- | del | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.240 | 10 | 87925558 | splice region variant | AGTA/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.790 | 0.160 | 10 | 87931042 | splice acceptor variant | AGTT/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.790 | 0.160 | 10 | 87961107 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87952211 | frameshift variant | C/- | del | 7.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.790 | 0.160 | 10 | 87952130 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87957872 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.160 | 10 | 87952258 | stop gained | C/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 1975 | 2014 | ||||
|
14 | 0.732 | 0.360 | 10 | 87960952 | stop gained | C/A;G | snv | 0.700 | 0 | ||||||||
|
29 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 1.000 | 7 | 1997 | 2015 | |||||
|
18 | 0.732 | 0.360 | 10 | 87952142 | missense variant | C/A;T | snv | 0.700 | 1.000 | 5 | 2007 | 2017 | |||||
|
24 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
35 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 4 | 1997 | 2013 |