Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.320 | 20 | 45894040 | missense variant | T/A | snv | 3.6E-05 | 4.9E-05 |
|
0.700 | 1.000 | 3 | 1996 | 2014 | |||||||
|
0.851 | 0.320 | 20 | 45894704 | frameshift variant | AT/- | delins |
|
0.700 | 1.000 | 3 | 1996 | 2014 | |||||||||
|
0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.827 | 0.200 | 8 | 143816821 | splice acceptor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.240 | 13 | 102873305 | frameshift variant | CT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 15 | 48534099 | frameshift variant | CATT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.400 | 19 | 13136099 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 8 | 143829279 | splice donor variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.320 | 22 | 30946373 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 8 | 143818408 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.160 | 8 | 143817591 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.240 | 15 | 48425829 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.701 | 0.280 | 12 | 112488466 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.240 | 2 | 39022774 | missense variant | T/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.480 | 2 | 144399104 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 9 | 93447639 | missense variant | G/A | snv | 6.8E-05 | 2.2E-04 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.280 | 13 | 38691375 | missense variant | G/A;T | snv | 3.5E-03 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.320 | 22 | 42211700 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.280 | X | 136040055 | frameshift variant | TCTTCCTTAACCACCGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.200 | X | 31177947 | stop gained | C/T | snv | 2.2E-05 | 2.9E-05 |
|
0.700 | 0 |