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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.240 | 13 | 24906906 | stop gained | G/A | snv | 8.4E-05 | 9.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.320 | 9 | 2115927 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 3 | 33014057 | missense variant | T/C | snv | 3.6E-05 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.320 | 11 | 119278162 | splice acceptor variant | AAAG/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 11 | 120956935 | missense variant | G/A | snv | 2.9E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.240 | 11 | 6617154 | splice acceptor variant | C/A;G;T | snv | 4.0E-04; 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 3 | 33058221 | missense variant | G/A | snv | 4.4E-05 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.240 | 1 | 119033279 | stop gained | G/A | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.240 | 13 | 24912736 | frameshift variant | -/T | delins | 3.2E-05 | 3.5E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.200 | 17 | 61966645 | stop gained | G/A;C;T | snv | 4.3E-06; 4.3E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 6 | 85508043 | frameshift variant | A/- | del | 6.4E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 10 | 79307487 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 2 | 166013812 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 1 | 42929244 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 8 | 132180246 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.240 | 11 | 6616714 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.280 | 9 | 92718565 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 6 | 43007265 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | X | 72488932 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 2 | 165381114 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 2 | 165386920 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 1 | 11129789 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 2 | 166013745 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 1 | 11144735 | missense variant | C/T | snv |
|
0.700 | 0 |