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 | 0.925 | 0.160 | 2 | 178592211 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 2 | 178739618 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 178537244 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 178543876 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
2 | 2 | 178560622 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 178573299 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 178585348 | splice acceptor variant | C/G | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 178586809 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.160 | 2 | 178588815 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 2 | 178614754 | splice acceptor variant | C/G | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 178636088 | frameshift variant | G/- | delins | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 2 | 178759040 | splice donor variant | CGTGTAA/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.120 | 2 | 178535516 | frameshift variant | -/A | ins | 0.700 | 0 | ||||||||
|
1 | 2 | 178546476 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||||
|
1 | 2 | 178557372 | frameshift variant | AAGT/- | del | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 2 | 178561756 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 2 | 178562617 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 2 | 178568034 | frameshift variant | CTTT/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 178571248 | frameshift variant | -/GTTT | delins | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 2 | 178573023 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 178576255 | stop gained | C/A | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 178576752 | frameshift variant | AC/- | delins | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.160 | 2 | 178590230 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 2 | 178592653 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||||
|
1 | 2 | 178598876 | frameshift variant | C/- | delins | 0.700 | 0 |