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 | 0.080 | 15 | 25339187 | frameshift variant | TAAGTTTTTCTTTGCTT/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 6 | 33440913 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 25339205 | frameshift variant | TTGAGTATTCCGGAAGT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 25370597 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 25370865 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 25340219 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 25371798 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 25371725 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 18 | 33742954 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 25339188 | frameshift variant | -/AAGTT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 25360440 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 154030618 | splice acceptor variant | GGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 25370574 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 25371320 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | X | 154032473 | frameshift variant | TCTT/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 154032416 | frameshift variant | GG/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.200 | X | 154031431 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
46 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
17 | 0.732 | 0.240 | X | 154030912 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 25339189 | frameshift variant | -/TAAGTTTTTCTTTGCTTGAGTATTCCGGAAGTAAAAGCACATTA | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 25356827 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 25339193 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 25371024 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 25371001 | frameshift variant | CATT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 25370766 | frameshift variant | CT/- | delins | 0.700 | 0 |