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 | 7670694 | frameshift variant | -/A | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674248 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674281 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675997 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674879 | frameshift variant | -/CACAC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676210 | stop gained | -/CATT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673711 | frameshift variant | -/CCCC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676144 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675151 | inframe insertion | -/GGGCGGGGGTGTGGAATC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674159 | coding sequence variant | -/GGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674887 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676215 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673810 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674288 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674949 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675236 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676091 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 17 | 7673795 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676031 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674974 | splice region variant | A/C | snv | 0.700 | 0 | ||||||||
|
20 | 0.695 | 0.360 | 17 | 7674242 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676043 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 17 | 7674268 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
20 | 0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv | 0.700 | 0 |