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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 5 | 112815499 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 5 | 112828001 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 112837687 | stop gained | T/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112840254 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112767293 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112819153 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 5 | 112838784 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112766393 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112766411 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112767313 | frameshift variant | GGTTCATTTCCAAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112775661 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112775677 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112775698 | frameshift variant | TCTC/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112775705 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112780797 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112780850 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 112792467 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112792485 | frameshift variant | C/TT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112792506 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112801278 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112815488 | splice region variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112819079 | frameshift variant | TCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112819244 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112821924 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 112821930 | frameshift variant | GT/-;GTGT | delins | 0.700 | 0 |