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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 14 | 56804268 | frameshift variant | ACA/CC | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 15 | 34255385 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.360 | 16 | 89282836 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.360 | 17 | 44862753 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.280 | 19 | 49601646 | frameshift variant | TGCC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.360 | X | 41346607 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | X | 53573795 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | X | 153693971 | missense variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
0.742 | 0.120 | 1 | 26697152 | frameshift variant | -/GCCGCCTCCCTCCTCCAGCGCC | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.320 | 1 | 153816414 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.320 | 3 | 41227287 | protein altering variant | CCACAAGCAG/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 6 | 50836108 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.240 | 17 | 38739601 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.400 | X | 53647576 | splice acceptor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.320 | 16 | 8811660 | missense variant | T/C | snv | 2.9E-04 | 4.1E-04 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 12 | 112489047 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 12 | 112489048 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.280 | 12 | 112489086 | missense variant | A/G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.695 | 0.480 | 4 | 55346393 | stop gained | G/A | snv | 1.2E-04 | 2.8E-05 |
|
0.700 | 0 |