| 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 | 0.240 | 13 | 20189386 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 0 | 1999 | 1999 | ||||||||
|
0.882 | 0.280 | 12 | 49029400 | splice donor variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.120 | 16 | 23988577 | missense variant | G/T | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.320 | 2 | 42769785 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.742 | 0.280 | 20 | 25339320 | frameshift variant | TCTTCCTCAGGCG/- | del |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.240 | X | 107640938 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.240 | X | 107650000 | missense variant | G/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.120 | 10 | 133370686 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.200 | 9 | 78248290 | splice acceptor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 9 | 78241729 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | X | 130137134 | start lost | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 11 | 77179925 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 13 | 20189066 | stop gained | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 19 | 3586669 | missense variant | G/A | snv | 7.4E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 15 | 43604750 | stop gained | G/A;C | snv | 1.8E-04 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 18 | 26862297 | missense variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.280 | 19 | 49601646 | frameshift variant | TGCC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 2 | 222297043 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 10 | 43111219 | frameshift variant | TG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 13 | 77900593 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 16 | 75630493 | frameshift variant | G/-;GG | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 22 | 37973567 | inframe deletion | CTGGGGTCAGAGATG/- | delins |
|
0.700 | 0 |