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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | X | 32287680 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | X | 31178681 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||||
|
1 | X | 32438240 | splice donor variant | C/- | delins | 0.700 | 0 | ||||||||||
|
1 | 3 | 8733962 | missense variant | C/A;T | snv | 0.800 | 0 | ||||||||||
|
1 | 17 | 39665448 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||||
|
1 | X | 32738791 | intron variant | T/C | snv | 0.700 | 0 | ||||||||||
|
1 | 3 | 49723016 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
|
1 | 17 | 80104590 | stop gained | G/T | snv | 0.700 | 0 | ||||||||||
|
1 | 11 | 22227300 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||||
|
1 | 9 | 116699102 | frameshift variant | -/TA | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 22236272 | missense variant | A/C | snv | 0.700 | 0 | ||||||||||
|
1 | X | 31209534 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.120 | 3 | 8745580 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | X | 31774182 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.120 | 15 | 42410645 | stop gained | C/G;T | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
3 | 1.000 | 0.120 | X | 33020138 | splice donor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 4 | 3473504 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 2 | 71551635 | missense variant | T/C | snv | 2.9E-05 | 0.700 | 0 | |||||||
|
4 | 1.000 | 0.120 | 6 | 129460287 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.120 | 4 | 3493047 | missense variant | C/T | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
5 | 1.000 | 0.120 | 2 | 71669207 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.200 | 17 | 50169246 | missense variant | G/A | snv | 1.1E-04 | 1.8E-04 | 0.700 | 0 | ||||||
|
5 | 0.925 | 0.120 | 2 | 71513892 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
5 | 1.000 | 16 | 2106222 | inframe deletion | CTC/- | delins | 0.700 | 0 | |||||||||
|
5 | 0.925 | 0.120 | 6 | 129486605 | missense variant | T/C;G | snv | 8.0E-06 | 0.700 | 0 |