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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | X | 31178766 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||||
|
4 | 0.925 | 0.080 | 14 | 101986027 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 6 | 33440746 | frameshift variant | -/AGGA | delins | 0.700 | 0 | |||||||||
|
4 | 0.925 | 0.160 | 12 | 116008442 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.120 | 21 | 45989093 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.120 | 9 | 133352060 | splice donor variant | C/A;T | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.120 | 19 | 49595234 | frameshift variant | -/ACCACCC | delins | 0.700 | 0 | ||||||||
|
6 | X | 32573812 | stop gained | C/A;G;T | snv | 5.5E-06; 5.5E-06 | 0.700 | 0 | |||||||||
|
6 | 0.925 | 0.160 | 6 | 33432700 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.040 | 12 | 13608611 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | X | 20167669 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
8 | 0.851 | 0.240 | 15 | 28211095 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.925 | 0.320 | 8 | 99853469 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.080 | 11 | 3825024 | missense variant | G/A;C;T | snv | 8.0E-06; 3.6E-05; 1.2E-05 | 0.700 | 0 | |||||||
|
9 | 0.827 | 0.160 | 1 | 155904739 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
10 | 1.000 | 0.160 | 2 | 219423784 | frameshift variant | CCCATCCAGACCTACTC/- | delins | 0.700 | 0 | ||||||||
|
10 | 0.851 | 0.200 | 16 | 23544677 | missense variant | G/A | snv | 1.5E-04 | 2.0E-04 | 0.700 | 0 | ||||||
|
10 | 0.851 | 0.200 | 21 | 43774297 | stop gained | G/A | snv | 4.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
11 | 0.807 | 0.320 | 17 | 80110055 | splice region variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.776 | 0.280 | 11 | 66530934 | frameshift variant | TG/- | del | 1.4E-05 | 0.700 | 0 | |||||||
|
13 | 0.807 | 0.240 | 19 | 49596253 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
14 | 0.882 | 0.200 | 6 | 33441318 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
14 | 0.807 | 0.360 | 16 | 74774623 | missense variant | C/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
14 | 0.807 | 0.240 | 2 | 218814379 | splice acceptor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
15 | 0.776 | 0.360 | 1 | 155904494 | stop gained | A/C;G;T | snv | 0.700 | 0 |