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 | 17 | 7674246 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||||
|
12 | 0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 17 | 7670691 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||||
|
1 | 17 | 7670659 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 7676120 | frameshift variant | GC/- | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 7674932 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 7675223 | missense variant | A/G | snv | 0.700 | 0 | ||||||||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.700 | 0 | ||||||||
|
1 | 17 | 7676379 | splice donor variant | -/A | delins | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.240 | 17 | 7673699 | splice donor variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
1 | 17 | 7676537 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 7676405 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||||
|
6 | 0.827 | 0.160 | 17 | 7670685 | frameshift variant | GG/A;G | delins | 0.700 | 0 | ||||||||
|
1 | 17 | 7673776 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 7676041 | frameshift variant | GGAAA/TTTT | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 7674939 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
8 | 0.851 | 0.080 | 17 | 7675207 | frameshift variant | GCA/CC | delins | 0.700 | 0 | ||||||||
|
1 | 17 | 7676043 | frameshift variant | A/TTGGG | delins | 0.700 | 0 | ||||||||||
|
5 | 0.851 | 0.240 | 17 | 7673700 | splice donor variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 17 | 7670698 | frameshift variant | GC/- | delins | 0.700 | 0 | ||||||||||
|
3 | 17 | 7676271 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
4 | 0.882 | 0.200 | 17 | 7674191 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 17 | 7675153 | frameshift variant | GGCGGGGGTGTGG/-;G | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 7673578 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||||
|
1 | 17 | 7673757 | frameshift variant | -/CT | delins | 0.700 | 0 |