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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.790 | 0.240 | 15 | 44659104 | frameshift variant | A/-;AA | delins |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.851 | 0.120 | 3 | 47846757 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.240 | 15 | 44615487 | stop gained | GTA/ATC | mnv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 1 | 43431458 | splice acceptor variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 16 | 3729444 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | X | 19350044 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.440 | 2 | 121530892 | non coding transcript exon variant | C/G;T | snv | 7.7E-06; 2.3E-05; 3.5E-04 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.200 | 2 | 162273913 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.200 | X | 150659665 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 1 | 43437254 | inframe deletion | TGT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 17 | 67975841 | missense variant | T/C;G | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.716 | 0.240 | 11 | 2585264 | missense variant | A/G | snv | 4.0E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 16 | 75635688 | missense variant | A/C | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 1 | 213242186 | missense variant | G/A | snv | 2.4E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 3 | 184140517 | missense variant | C/G;T | snv | 1.6E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.440 | 2 | 121530927 | non coding transcript exon variant | G/A | snv | 4.6E-05; 7.7E-06 | 4.9E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.200 | 16 | 75635982 | missense variant | G/A | snv | 1.4E-04 | 1.3E-04 |
|
0.700 | 0 |