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 | 17 | 7676043 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676210 | stop gained | -/CATT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674972 | splice acceptor variant | C/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 7675197 | stop gained | T/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675997 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675064 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675115 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675989 | splice region variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676176 | stop gained | T/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7670664 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7670673 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7670673 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7670675 | frameshift variant | TCAGCTCT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7670694 | frameshift variant | -/A | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7670706 | splice acceptor variant | CCCACGGATCTGCAGCAACAGAGGAGGGGGAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7670712 | frameshift variant | GG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673582 | frameshift variant | AGAGGAGCTG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673595 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673711 | frameshift variant | -/CCCC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673728 | frameshift variant | CGTGG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673731 | inframe deletion | GAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673780 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673810 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673823 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674159 | coding sequence variant | -/GGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATG | delins | 0.700 | 0 |