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 | 5 | 37187488 | missense variant | G/A | snv | 1.6E-05; 4.0E-06 | 2.1E-05 | 0.800 | 1.000 | 4 | 2012 | 2015 | ||||
|
2 | 0.925 | 0.080 | 5 | 37244452 | frameshift variant | T/- | del | 7.0E-05 | 0.700 | 1.000 | 5 | 2014 | 2018 | ||||
|
2 | 0.925 | 0.080 | 5 | 37198797 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 4 | 2013 | 2017 | |||
|
2 | 0.925 | 0.080 | 5 | 37165595 | stop gained | G/A | snv | 5.7E-05 | 0.700 | 1.000 | 2 | 2012 | 2015 | ||||
|
4 | 0.882 | 0.080 | 5 | 37157810 | stop gained | A/T | snv | 2.4E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2015 | 2015 | |||
|
5 | 0.851 | 0.200 | 5 | 37226776 | frameshift variant | A/-;AA | delins | 1.8E-04 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
2 | 0.925 | 0.080 | 5 | 37244373 | splice donor variant | A/T | snv | 1.3E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 5 | 37198775 | missense variant | G/A;T | snv | 1.6E-05; 8.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 5 | 37243012 | splice donor variant | C/G | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 5 | 37125330 | stop gained | G/A | snv | 3.2E-05 | 4.2E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 5 | 37187826 | synonymous variant | A/G | snv | 6.5E-04 | 8.5E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 5 | 37153973 | stop gained | G/A | snv | 2.0E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 5 | 37148216 | frameshift variant | -/C | ins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 5 | 37184955 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 0.925 | 0.080 | 5 | 37139371 | splice acceptor variant | C/G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 5 | 37164272 | splice donor variant | C/T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 5 | 37182833 | missense variant | G/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 5 | 37231020 | missense variant | G/A | snv | 2.6E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 5 | 37120306 | stop gained | G/A | snv | 3.1E-05 | 1.9E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 5 | 37226811 | stop gained | A/C | snv | 8.4E-05 | 6.3E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 5 | 37153962 | frameshift variant | TC/- | del | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 0.925 | 0.080 | 5 | 37244521 | missense variant | C/T | snv | 1.2E-04 | 1.4E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 5 | 37183538 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 5 | 37221459 | missense variant | G/A;T | snv | 3.5E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 5 | 37170233 | frameshift variant | CA/- | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 |