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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.200 | 11 | 2768861 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.160 | 3 | 69959325 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 1 | 215993103 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.790 | 0.200 | 1 | 216247185 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.807 | 0.200 | 1 | 215728232 | stop gained | C/T | snv | 9.2E-05 | 1.2E-04 | 0.700 | 0 | ||||||
|
6 | 0.827 | 0.200 | 1 | 216097196 | stop gained | G/A | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.200 | 16 | 75635982 | missense variant | G/A | snv | 1.4E-04 | 1.3E-04 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.200 | 17 | 74920325 | stop gained | C/A;T | snv | 4.1E-06; 8.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 3 | 121994215 | frameshift variant | A/- | delins | 1.0E-04 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 10 | 54090054 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 18157059 | stop gained | C/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.200 | 16 | 75635688 | missense variant | A/C | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 17 | 18149489 | frameshift variant | ACAG/- | delins | 1.3E-04 | 0.700 | 0 | |||||||
|
54 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | ||||||||
|
25 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 0.700 | 0 | ||||||
|
6 | 0.807 | 0.200 | 1 | 216073096 | splice donor variant | C/T | snv | 1.2E-05 | 0.700 | 0 |