| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 20 | 63692960 | frameshift variant | C/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 20 | 63689581 | frameshift variant | -/C | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63690922 | frameshift variant | G/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63691819 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63693149 | frameshift variant | A/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63694478 | frameshift variant | -/C | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63694961 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63674071 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63691769 | frameshift variant | TCTG/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63662608 | frameshift variant | AA/- | del | 1.2E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 20 | 63688138 | splice acceptor variant | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63690803 | splice acceptor variant | A/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63692803 | splice acceptor variant | A/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 63694739 | splice acceptor variant | A/C;T | snv | 1.7E-05; 4.2E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 20 | 63695064 | splice acceptor variant | A/G | snv | 0.700 | 0 |