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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.851 | 0.320 | 20 | 45894704 | frameshift variant | AT/- | delins | 0.700 | 1.000 | 3 | 1996 | 2014 | |||||
|
27 | 0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.827 | 0.200 | 8 | 143816821 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
8 | 0.790 | 0.240 | 13 | 102873305 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.120 | 15 | 48534099 | frameshift variant | CATT/- | delins | 0.700 | 0 | ||||||||
|
34 | 0.716 | 0.400 | 19 | 13136099 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 8 | 143829279 | splice donor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
29 | 0.752 | 0.320 | 22 | 30946373 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 8 | 143818408 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.807 | 0.160 | 8 | 143817591 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
18 | 0.742 | 0.240 | 15 | 48425829 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
36 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
73 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
30 | 0.752 | 0.480 | 2 | 144399104 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.320 | 22 | 42211700 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
14 | 0.790 | 0.280 | X | 136040055 | frameshift variant | TCTTCCTTAACCACCGC/- | delins | 0.700 | 0 | ||||||||
|
27 | 0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 | 0.700 | 0 | |||||||
|
38 | 0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.160 | 12 | 112450497 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
39 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
27 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
87 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
11 | 0.776 | 0.280 | 10 | 87933079 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
17 | 0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
53 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 |