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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 5 | 228324 | splice donor variant | TGCCACAGGGTAGGAATCTCATTTCT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 225906 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 5 | 240451 | stop gained | CG/GA | mnv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 251011 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 5 | 251338 | missense variant | G/A | snv | 4.1E-06 | 0.800 | 0 | |||||||
|
2 | 0.925 | 0.080 | 5 | 225483 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 5 | 228283 | frameshift variant | ACGGG/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 5 | 230880 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 5 | 240471 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 5 | 251051 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 5 | 218395 | frameshift variant | -/CTGGCGC | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 5 | 224461 | stop gained | -/TTTA | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 5 | 228206 | frameshift variant | AT/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 5 | 230985 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 5 | 233576 | frameshift variant | CT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 112088902 | missense variant | G/A | snv | 8.0E-06 | 0.800 | 0 | |||||||
|
3 | 0.925 | 0.080 | 5 | 228229 | frameshift variant | G/- | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 5 | 233635 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 5 | 251069 | stop gained | T/C;G | snv | 3.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 5 | 233566 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 5 | 228191 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 5 | 225979 | stop gained | C/G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.776 | 0.280 | 11 | 112088939 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.080 | 5 | 226041 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 5 | 236600 | splice donor variant | G/C | snv | 0.700 | 0 |