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 | 0.280 | 16 | 89279695 | stop gained | G/A;T | snv | 0.700 | 1.000 | 17 | 2004 | 2017 | |||||
|
1 | 1.000 | 16 | 89279215 | stop gained | G/A | snv | 0.700 | 1.000 | 17 | 2004 | 2017 | ||||||
|
1 | 1.000 | 16 | 89281005 | frameshift variant | A/- | delins | 0.700 | 1.000 | 17 | 2004 | 2017 | ||||||
|
1 | 1.000 | 16 | 89281640 | frameshift variant | A/- | del | 0.700 | 1.000 | 17 | 2004 | 2017 | ||||||
|
2 | 1.000 | 16 | 89282837 | frameshift variant | ATTT/- | delins | 0.700 | 1.000 | 17 | 2004 | 2017 | ||||||
|
3 | 1.000 | 16 | 89283207 | frameshift variant | -/T | delins | 0.700 | 1.000 | 17 | 2004 | 2017 | ||||||
|
1 | 1.000 | 16 | 89284048 | frameshift variant | T/- | del | 0.700 | 1.000 | 17 | 2004 | 2017 | ||||||
|
2 | 1.000 | 16 | 89284412 | stop gained | C/T | snv | 0.700 | 1.000 | 17 | 2004 | 2017 | ||||||
|
2 | 1.000 | 16 | 89284912 | frameshift variant | GTGCTGGT/- | delins | 0.700 | 1.000 | 17 | 2004 | 2017 | ||||||
|
2 | 0.925 | 0.280 | 16 | 89285079 | frameshift variant | CT/- | delins | 0.700 | 1.000 | 17 | 2004 | 2017 | |||||
|
1 | 1.000 | 16 | 89285153 | frameshift variant | T/- | delins | 0.700 | 1.000 | 17 | 2004 | 2017 | ||||||
|
1 | 1.000 | 16 | 89285160 | frameshift variant | CT/- | delins | 0.700 | 1.000 | 17 | 2004 | 2017 | ||||||
|
5 | 0.925 | 0.280 | 16 | 89279750 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 17 | 2004 | 2017 | |||||
|
3 | 0.925 | 0.280 | 16 | 89282771 | frameshift variant | TT/- | delins | 0.700 | 1.000 | 17 | 2004 | 2017 | |||||
|
2 | 0.925 | 0.280 | 16 | 89284345 | stop gained | G/A;T | snv | 0.700 | 1.000 | 17 | 2004 | 2017 |