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 | 7 | 128844254 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 128858475 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 128848974 | splice donor variant | -/ACGTCACA | delins | 4.1E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 7 | 128840055 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 128835417 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 128840127 | frameshift variant | GGGGAGC/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 128842782 | splice acceptor variant | TTCTCTGCAGGCGACGTGAGCATCGGC/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 128849540 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 128851482 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 128856560 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 128856637 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 128856856 | frameshift variant | -/TGCT | ins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 128856895 | frameshift variant | TCCTGGGCTCGAG/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 128830784 | frameshift variant | C/TCT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 128843554 | inframe deletion | TCAAGTACACCG/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 128847739 | frameshift variant | AAGG/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 128848601 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 128849348 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 128851345 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 128851454 | coding sequence variant | G/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 128853799 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 128840603 | stop gained | C/A;T | snv | 6.0E-05 | 8.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 7 | 128837503 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 7 | 128840159 | splice donor variant | AAGT/- | del | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 7 | 128846136 | stop gained | C/G;T | snv | 8.0E-06 | 0.700 | 0 |