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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del | 0.700 | 1.000 | 3 | 2016 | 2018 | |||||
|
5 | 1.000 | 0.120 | 11 | 68906163 | missense variant | G/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
27 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
10 | 1.000 | 0.160 | 2 | 219423784 | frameshift variant | CCCATCCAGACCTACTC/- | delins | 0.700 | 0 | ||||||||
|
37 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | X | 32380517 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
7 | 0.851 | 0.200 | 12 | 6870074 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.200 | 10 | 49664880 | missense variant | C/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
13 | 1.000 | 1 | 179917914 | missense variant | C/T | snv | 3.2E-05 | 5.6E-05 | 0.700 | 0 | |||||||
|
5 | 0.925 | 0.120 | 6 | 129486605 | missense variant | T/C;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
28 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
27 | 0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
11 | 0.827 | 0.200 | 10 | 49627735 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
4 | 11 | 68917781 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||||
|
22 | 0.851 | 0.120 | 12 | 21452130 | missense variant | A/G | snv | 4.7E-05 | 2.1E-05 | 0.700 | 0 |