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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 1 | 201361327 | missense variant | C/A | snv | 2.2E-04 | 7.0E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 1 | 201365292 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 201361970 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 1 | 201361971 | inframe deletion | CTT/- | delins | 0.700 | 1.000 | 13 | 2000 | 2013 | |||||
|
4 | 0.851 | 0.080 | 1 | 201363377 | inframe deletion | CTC/- | delins | 0.700 | 1.000 | 9 | 1995 | 2016 |