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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 4 | 106233045 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 3 | 2015 | 2016 | |||||
|
1 | 1.000 | 4 | 106230366 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2013 | 2016 | |||||
|
3 | 0.882 | 0.120 | 4 | 106262103 | stop gained | G/A | snv | 7.7E-05 | 2.2E-04 | 0.700 | 1.000 | 2 | 2016 | 2016 | |||
|
1 | 1.000 | 4 | 106247238 | frameshift variant | -/AT | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
44 | 0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 4 | 106262116 | frameshift variant | ATTA/- | del | 0.700 | 0 | |||||||||
|
6 | 0.851 | 0.080 | 4 | 106194717 | splice donor variant | C/A;T | snv | 4.3E-06; 8.7E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 4 | 106235355 | stop gained | T/A | snv | 2.0E-05 | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 4 | 106171272 | splice acceptor variant | T/C | snv | 3.0E-05 | 4.9E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 4 | 106235348 | frameshift variant | T/-;TT | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 4 | 106247264 | frameshift variant | CATT/- | delins | 5.6E-05 | 0.700 | 0 |