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 | 10 | 87933012 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 10 | 87957893 | stop gained | T/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 87925547 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 87952254 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 10 | 87957938 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 87925524 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 87933253 | splice donor variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 87933104 | frameshift variant | -/GACAATCATGTTG | delins | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.080 | 10 | 87933075 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.200 | 10 | 87961096 | missense variant | G/A;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 | ||||||||
|
4 | 0.851 | 0.320 | 10 | 87933175 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 10 | 87957885 | stop gained | A/T | 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 | 0.882 | 0.080 | 10 | 87952230 | missense variant | C/T | snv | 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 | ||||||||
|
2 | 1.000 | 0.080 | 10 | 87933087 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.790 | 0.160 | 10 | 87961067 | stop gained | TGACAAAGCAAATA/CGCTT | delins | 0.700 | 0 |