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 | ||||||||
|
6 | 0.827 | 0.160 | 7 | 128845022 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2011 | 2015 | |||||
|
3 | 0.882 | 0.120 | 7 | 128842700 | splice donor variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.040 | 7 | 128845012 | missense variant | GC/CT | mnv | 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 | 128841511 | stop gained | G/A;T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
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 | 128846129 | frameshift variant | -/TACC | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 7 | 128848693 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
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 | 128855315 | splice donor variant | G/A | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | |||||
|
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 | 7 | 128835341 | missense variant | T/C | snv | 0.700 | 0 | |||||||||
|
3 | 0.882 | 0.120 | 7 | 128837258 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 7 | 128847739 | frameshift variant | AAGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 7 | 128848595 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
3 | 0.882 | 0.120 | 7 | 128848601 | stop gained | A/T | snv | 0.700 | 0 |