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 | 0.080 | 7 | 42045460 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 11 | 46900261 | splice donor variant | C/T | snv | 2.4E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.776 | 0.120 | 2 | 142918608 | splice acceptor variant | G/T | snv | 1.4E-04 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.280 | 1 | 8358231 | missense variant | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 9 | 96254907 | missense variant | G/A | snv | 3.2E-05 | 7.0E-06 |
|
0.800 | 1.000 | 5 | 1998 | 2013 | |||||||
|
0.925 | 0.240 | 9 | 96254864 | splice region variant | T/A | snv | 3.4E-04 | 3.7E-04 |
|
0.700 | 1.000 | 4 | 1996 | 2012 | |||||||
|
1.000 | 0.240 | 9 | 96245352 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.240 | 9 | 96254924 | missense variant | T/C;G | snv | 1.6E-05; 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2017 | |||||||||
|
0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.776 | 0.120 | 2 | 142918608 | splice acceptor variant | G/T | snv | 1.4E-04 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.160 | 16 | 3508407 | missense variant | T/G | snv | 1.3E-05 | 4.2E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.160 | 16 | 3520011 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.280 | 12 | 51765746 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 11 | 71441401 | stop gained | C/G;T | snv | 7.7E-04 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.280 | 6 | 33438873 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.080 | 8 | 23007627 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.320 | X | 53647390 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 11 | 71439055 | missense variant | A/C;G | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.360 | X | 134393952 | missense variant | G/A | snv |
|
0.700 | 0 |