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 | 1.000 | 0.040 | 11 | 47341143 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 11 | 47341140 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47339358 | frameshift variant | -/T | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 11 | 47338665 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 11 | 47337791 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47337481 | stop gained | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 11 | 47337468 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47337457 | inframe deletion | CGCATCTCG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47333969 | frameshift variant | TCTGG/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 11 | 47333707 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 11 | 47333291 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 11 | 47333297 | frameshift variant | -/A | ins | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 11 | 47333271 | stop gained | C/A;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 11 | 47333226 | frameshift variant | -/C | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 11 | 47332824 | frameshift variant | -/TAAA | delins | 8.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 11 | 47332704 | splice acceptor variant | T/A;C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47350558 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47350546 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 11 | 47332192 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47332133 | stop gained | A/C;G | snv | 1.0E-04 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 11 | 47331882 | splice acceptor variant | C/T | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 11 | 47350087 | frameshift variant | AC/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 11 | 47350082 | frameshift variant | -/T | delins | 3.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 11 | 47350060 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 11 | 47349923 | splice acceptor variant | C/A;G;T | snv | 0.700 | 0 |