| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.200 | 16 | 16150646 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.280 | 16 | 16154638 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.240 | 16 | 16154644 | stop gained | G/A | snv | 2.0E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 16 | 16154767 | missense variant | G/A;T | snv | 4.9E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 16 | 16154898 | missense variant | C/A;G;T | snv | 4.1E-06; 4.1E-06; 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.320 | 16 | 16154899 | missense variant | G/A;T | snv | 8.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 16 | 16154910 | missense variant | A/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 16 | 16154938 | missense variant | C/A;T | snv | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.280 | 16 | 16154974 | missense variant | G/A;T | snv | 1.9E-04; 5.4E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 16 | 16155002 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 16 | 16155007 | missense variant | C/G;T | snv | 6.0E-06; 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 16 | 16155010 | missense variant | C/T | snv | 4.8E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 16 | 16157663 | inframe deletion | TCT/- | delins | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 16 | 16157675 | frameshift variant | -/GGAT | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.280 | 16 | 16157770 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 16 | 16157770 | frameshift variant | A/- | del | 8.4E-05 | 4.9E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.240 | 16 | 16157810 | splice acceptor variant | C/T | snv | 4.1E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 16 | 16159494 | missense variant | C/G | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 16 | 16159505 | missense variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 16 | 16159508 | stop gained | G/A | snv | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.240 | 16 | 16159555 | missense variant | C/T | snv | 2.8E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.240 | 16 | 16159556 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 16 | 16161437 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 16 | 16163008 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.320 | 16 | 16163009 | stop gained | G/A | snv | 1.7E-04 | 1.2E-04 |
|
0.700 | 0 |