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 | 0.160 | 3 | 14152376 | stop gained | T/A | snv | 3.5E-05 | 0.700 | 1.000 | 3 | 2006 | 2013 | ||||
|
2 | 0.925 | 0.160 | 3 | 14167223 | frameshift variant | AT/- | delins | 2.4E-05 | 2.1E-05 | 0.700 | 1.000 | 3 | 2000 | 2007 | |||
|
2 | 0.925 | 0.160 | 3 | 14158239 | frameshift variant | CA/- | delins | 2.0E-05 | 3.5E-05 | 0.700 | 1.000 | 2 | 2006 | 2016 | |||
|
2 | 0.925 | 0.160 | 3 | 14148732 | splice acceptor variant | C/G;T | snv | 2.4E-05 | 0.700 | 1.000 | 2 | 2011 | 2016 | ||||
|
1 | 1.000 | 0.160 | 3 | 14168330 | stop gained | G/A;C | snv | 1.6E-05; 4.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2013 | ||||
|
2 | 0.925 | 0.160 | 3 | 14165512 | missense variant | A/G | snv | 2.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.160 | 3 | 14158640 | stop gained | G/A | snv | 1.2E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.160 | 3 | 14158463 | stop gained | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 3 | 14154795 | intron variant | AATATTTATAAATATTATAAATTTATTTATATATATAAATATATATAATTTATAAATATTATAAATTATTATAAAAAATT/- | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
60 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
53 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 |