| 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 | 16187133 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.280 | 16 | 16157770 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 16 | 16157675 | frameshift variant | -/GGAT | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 16 | 16157770 | frameshift variant | A/- | del | 8.4E-05 | 4.9E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.240 | 16 | 16185039 | splice region variant | A/C | snv | 2.4E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 16 | 16163129 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.280 | 16 | 16188907 | missense variant | A/G | snv | 1.2E-04 | 3.6E-04 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 16 | 16182856 | missense variant | A/G | snv | 2.4E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 16 | 16190196 | missense variant | A/G | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 16 | 16188958 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 16 | 16154910 | missense variant | A/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.280 | 16 | 16178961 | missense variant | A/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 16 | 16165784 | inframe deletion | AAG/- | delins | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 16 | 16203407 | splice donor variant | AC/- | delins | 4.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 16 | 16178830 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 16 | 16182896 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 16 | 16155002 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 16 | 16150646 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 16 | 16182875 | frameshift variant | C/-;CC | delins | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.280 | 16 | 16223398 | splice donor variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | 16 | 16173283 | splice donor variant | C/A | snv | 8.0E-06; 1.2E-04 | 1.7E-04 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 16 | 16190280 | stop gained | C/A;G | snv | 4.0E-06; 1.2E-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 | |||||||||||
|
0.925 | 0.200 | 16 | 16187192 | missense variant | C/A;G;T | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 16 | 16219688 | splice region variant | C/A;T | snv | 3.6E-05; 2.6E-02 |
|
0.700 | 0 |