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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112827985 | frameshift variant | TG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112834972 | frameshift variant | -/TG | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 5 | 112834986 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112834994 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112837753 | frameshift variant | GGAAGTGCTG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112837779 | frameshift variant | -/GCAGCTT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112838028 | frameshift variant | GACAATTTTA/CC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112838288 | frameshift variant | T/- | del | 0.700 | 0 |