Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 2 | 202530845 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202530865 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202532658 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202532677 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202542401 | frameshift variant | A/-;AA | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202542448 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202552726 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.120 | 2 | 202556360 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 2 | 202464950 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202552756 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 2 | 202552773 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202556282 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 2 | 202552774 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202467638 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202530820 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 2 | 202518831 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202532698 | frameshift variant | -/GA | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202556373 | missense variant | A/G | snv | 1.2E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 2 | 202520094 | stop gained | T/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202555415 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 2 | 202520085 | splice acceptor variant | A/G | snv | 7.2E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 2 | 202467648 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202513739 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 2 | 202518837 | stop gained | C/T | snv | 0.700 | 0 |