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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.160 | 11 | 1451405 | frameshift variant | AG/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.160 | 15 | 76471314 | frameshift variant | ATTG/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.280 | 14 | 88841196 | missense variant | G/A | snv | 6.4E-05 | 3.5E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.320 | 22 | 42211700 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.320 | 9 | 2115927 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.320 | 11 | 119278162 | splice acceptor variant | AAAG/- | del |
|
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 | |||||||||||
|
0.851 | 0.240 | 1 | 42929977 | frameshift variant | AT/- | del |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.320 | 6 | 30723724 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | X | 53551078 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | X | 85255275 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 2 | 2009 | 2017 | |||||||||
|
0.882 | 0.160 | 7 | 39686740 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.280 | 11 | 1443490 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.200 | 6 | 85533701 | frameshift variant | -/AAAAAAAAAAA | delins | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 10 | 180034 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | X | 41341587 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 19 | 13235702 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 15 | 76381427 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.240 | 1 | 119033203 | missense variant | T/C | snv | 6.4E-05 | 2.3E-04 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 15 | 76753813 | inframe deletion | CTT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 7 | 50463317 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.240 | 6 | 129143976 | missense variant | C/T | snv | 6.0E-05 | 9.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 11 | 70661635 | frameshift variant | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 13 | 24906906 | stop gained | G/A | snv | 8.4E-05 | 9.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.240 | 1 | 119033279 | stop gained | G/A | snv | 1.2E-05 |
|
0.700 | 0 |