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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.925 | 0.200 | 6 | 43040335 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
14 | 1.000 | 0.200 | 6 | 43041036 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
9 | 0.925 | 0.200 | 6 | 43044835 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.807 | 0.200 | 6 | 43050050 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.882 | 0.200 | 6 | 43052582 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
12 | 0.925 | 0.200 | 2 | 219568050 | splice donor variant | ACCTTTGACTG/- | delins | 8.1E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
60 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.925 | 0.120 | 9 | 134798410 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
36 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
13 | 0.851 | 0.240 | 17 | 81934931 | missense variant | C/T | snv | 2.4E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
64 | 0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
15 | 0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv | 0.700 | 0 |