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 | 0.120 | 13 | 32379846 | frameshift variant | GTAAA/- | delins | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
3 | 0.882 | 0.200 | 13 | 32337987 | frameshift variant | A/-;AA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 32319208 | frameshift variant | GAAACCATCTTATAATCAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 32330960 | stop gained | GA/CT | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 32337557 | frameshift variant | GTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAA/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 32339248 | frameshift variant | GTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 32339693 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 32340115 | frameshift variant | TTGCTGACATT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 32362681 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 32397046 | splice donor variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 13 | 32340622 | frameshift variant | GCA/C | delins | 4.1E-06 | 0.700 | 0 | |||||||
|
7 | 0.807 | 0.200 | 13 | 32379886 | frameshift variant | AAAA/-;AAA;AAAAA | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.200 | 13 | 32332975 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 13 | 32333282 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
14 | 0.724 | 0.440 | 13 | 32340037 | stop gained | C/A;G;T | snv | 4.0E-06; 2.0E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.200 | 13 | 32362594 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 13 | 32339850 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 13 | 32337185 | stop gained | A/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
11 | 0.724 | 0.320 | 13 | 32339320 | stop gained | C/A;G;R | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
9 | 0.790 | 0.240 | 13 | 32340000 | stop gained | C/A;G | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
12 | 0.732 | 0.400 | 13 | 32346841 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.200 | 13 | 32362693 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.200 | 13 | 32332779 | frameshift variant | AAGAAAGA/-;AAGA | delins | 4.1E-06 | 3.5E-05 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.200 | 13 | 32337618 | frameshift variant | -/T;TT | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 13 | 32338201 | frameshift variant | GT/- | delins | 0.700 | 0 |