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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | X | 147928320 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
46 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.280 | 1 | 102915626 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 10 | 87894076 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 10 | 87864504 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.160 | 10 | 87933128 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.790 | 0.240 | 10 | 87933160 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.160 | 10 | 87864509 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.320 | 10 | 87933175 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.160 | 10 | 87933178 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.200 | 10 | 87933229 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.160 | 10 | 87952144 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.160 | 10 | 87952231 | frameshift variant | AT/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 10 | 87952240 | frameshift variant | TCAGT/- | delins | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.160 | 10 | 87957850 | splice region variant | C/G | snv | 0.700 | 0 | ||||||||
|
14 | 0.776 | 0.280 | 10 | 87952143 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 2 | 161416881 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 2 | 161417083 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 2 | 161417690 | frameshift variant | GTTTTAA/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 2 | 161417794 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 2 | 161417827 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 2 | 161418249 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 2 | 161420241 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 2 | 161423547 | frameshift variant | ACG/CA | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 2 | 161423815 | frameshift variant | -/GCCCGCAGTC | delins | 0.700 | 0 |