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 | 0.080 | 2 | 202542432 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202520195 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202377501 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202377522 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202377555 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202464832 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202464884 | frameshift variant | TC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202464932 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202464935 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202464976 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202464980 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202467551 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202467640 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202467670 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202467675 | frameshift variant | AACAC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202467694 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202513748 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202514968 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202518993 | frameshift variant | AGAG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202520086 | splice acceptor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202520204 | splice region variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202530793 | splice acceptor variant | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 202530818 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
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 |