Source: ALL
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 | 12 | 63808776 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 0.800 | 1.000 | 5 | 2012 | 2016 | |||
|
1 | 1.000 | 12 | 63808779 | missense variant | GA/TT | mnv | 0.700 | 1.000 | 5 | 2012 | 2016 | ||||||
|
1 | 1.000 | 12 | 63781018 | splice acceptor variant | G/- | del | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
1 | 1.000 | 12 | 63802406 | splice donor variant | G/A | snv | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
1 | 1.000 | 12 | 63808730 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 63785034 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 63805285 | frameshift variant | G/- | del | 4.0E-06 | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 12 | 63808824 | frameshift variant | ACGTGATGACAGCTGGCAACTGTGGGAA/- | del | 8.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 12 | 63781126 | frameshift variant | A/- | delins | 4.1E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 12 | 63808778 | stop gained | C/A;T | snv | 1.2E-05; 1.6E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 12 | 63780095 | frameshift variant | G/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 63780076 | frameshift variant | GGGCCTCAGGAAGGGGGCGGCCCCCGCG/- | delins | 1.4E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 12 | 63802308 | frameshift variant | A/- | delins | 0.700 | 0 |