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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.200 | 13 | 32376691 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 13 | 32331022 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 13 | 32333296 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.200 | 13 | 32363410 | frameshift variant | -/AG | ins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.200 | 13 | 32398403 | frameshift variant | -/ATTT | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 13 | 32319111 | frameshift variant | -/C | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.200 | 13 | 32339717 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 13 | 32355233 | frameshift variant | -/G | ins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 13 | 32329480 | frameshift variant | -/GATA | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 13 | 32340621 | frameshift variant | -/GCAT | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 13 | 32337642 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 13 | 32346886 | frameshift variant | -/T | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 13 | 32337618 | frameshift variant | -/T;TT | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 13 | 32339092 | frameshift variant | -/TG | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 13 | 32338329 | frameshift variant | -/TGCT | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 13 | 32332668 | stop gained | -/TTAG | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 13 | 32332537 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 13 | 32337647 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 13 | 32338070 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 13 | 32379492 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 13 | 32339122 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 13 | 32338094 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 13 | 32333228 | frameshift variant | A/-;AA | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 13 | 32332429 | frameshift variant | A/-;AA | delins | 0.700 | 0 | ||||||||
|
29 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 0.100 | 0.923 | 13 | 2000 | 2017 |