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 | 87931042 | splice acceptor variant | AGTT/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.790 | 0.160 | 10 | 87931094 | splice region variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.790 | 0.160 | 10 | 87933252 | splice donor variant | G/T | snv | 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 | 87952135 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.742 | 0.240 | 10 | 87933127 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87925557 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87957984 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87957872 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87960957 | frameshift variant | -/CT;TTCT | ins | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87961107 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87933057 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87933061 | frameshift variant | -/AAACC | delins | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87933253 | splice donor variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87952159 | stop gained | TA/AT | mnv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87933106 | frameshift variant | ACAAT/- | del | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87957914 | frameshift variant | A/- | del | 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 | 87864506 | frameshift variant | AA/-;AAA | delins | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87960893 | splice acceptor variant | G/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87952130 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.160 | 10 | 87957955 | missense variant | C/T | snv | 0.700 | 1.000 | 8 | 1999 | 2017 | |||||
|
8 | 0.790 | 0.160 | 10 | 87931045 | splice acceptor variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.790 | 0.160 | 10 | 87952260 | splice donor variant | G/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.790 | 0.160 | 10 | 87925562 | splice region variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |