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 | 0.160 | X | 31323625 | stop gained | G/A;T | snv | 1.1E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | X | 32454660 | splice donor variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 32438312 | stop gained | C/A;T | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | X | 31657989 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 31774193 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 31875197 | frameshift variant | -/AATG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 32809512 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 32485053 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 32518006 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 32809612 | splice acceptor variant | C/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 32816514 | inframe deletion | GTG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 32364712 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 32461403 | intron variant | T/C;G | snv | 5.7E-03 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | X | 32501833 | stop gained | G/A;C | snv | 5.9E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | X | 32365049 | stop gained | G/A;T | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | X | 31479043 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 31182849 | frameshift variant | CATCCAGTCT/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 31968451 | splice acceptor variant | C/A;G | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | X | 32491492 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 32380626 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 31968341 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.120 | X | 31496876 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 31178789 | inframe deletion | TCT/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 31169543 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 31209497 | splice donor variant | C/T | snv | 0.700 | 0 |