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 | 0.120 | 16 | 89745063 | inframe deletion | CAC/- | delins | 0.700 | 1.000 | 7 | 1997 | 2015 | |||||
|
2 | 0.925 | 0.120 | 16 | 89746848 | missense variant | T/C;G | snv | 8.7E-05 | 0.700 | 1.000 | 7 | 1991 | 2012 | ||||
|
2 | 0.925 | 0.120 | 16 | 89738944 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 7 | 2005 | 2018 | |||
|
2 | 0.925 | 0.120 | 16 | 89792034 | frameshift variant | CAAC/- | delins | 7.2E-05 | 5.6E-05 | 0.700 | 1.000 | 6 | 1996 | 2014 | |||
|
2 | 0.925 | 0.120 | 16 | 89761949 | missense variant | C/A;T | snv | 5.2E-05 | 0.700 | 1.000 | 6 | 2002 | 2016 | ||||
|
2 | 0.925 | 0.120 | 16 | 89816614 | start lost | A/G;T | snv | 4.1E-05; 8.3E-06 | 0.700 | 1.000 | 6 | 1999 | 2014 | ||||
|
1 | 1.000 | 0.120 | 16 | 89791458 | missense variant | C/A;T | snv | 0.700 | 1.000 | 5 | 1999 | 2009 | |||||
|
2 | 0.925 | 0.120 | 16 | 89761950 | missense variant | G/A;T | snv | 2.4E-05; 4.0E-06 | 0.700 | 1.000 | 5 | 2008 | 2016 | ||||
|
2 | 0.925 | 0.120 | 16 | 89816551 | stop gained | C/T | snv | 1.2E-04 | 4.2E-05 | 0.700 | 1.000 | 5 | 1998 | 2018 | |||
|
2 | 0.925 | 0.120 | 9 | 95249255 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 1993 | 2015 | ||||
|
2 | 0.925 | 0.120 | 9 | 95107211 | frameshift variant | AG/- | delins | 4.0E-06 | 0.700 | 1.000 | 4 | 1993 | 2016 | ||||
|
2 | 0.925 | 0.120 | 16 | 89761961 | stop gained | G/C | snv | 4.0E-06; 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 4 | 1997 | 2018 | |||
|
1 | 1.000 | 0.120 | 2 | 58160148 | frameshift variant | CT/-;CTCT | delins | 7.6E-05 | 0.700 | 1.000 | 4 | 2003 | 2014 | ||||
|
2 | 0.925 | 0.120 | 16 | 89749806 | missense variant | G/A;T | snv | 2.0E-05; 1.2E-05 | 0.700 | 1.000 | 4 | 1999 | 2009 | ||||
|
3 | 0.925 | 0.120 | 9 | 95172033 | splice region variant | T/A | snv | 2.9E-04 | 2.1E-04 | 0.700 | 1.000 | 3 | 1993 | 2000 | |||
|
3 | 0.882 | 0.120 | 9 | 35076442 | stop gained | G/A | snv | 4.0E-06 | 0.710 | 1.000 | 3 | 2003 | 2015 | ||||
|
2 | 0.925 | 0.120 | 16 | 89799197 | stop gained | C/A | snv | 6.0E-05 | 5.6E-05 | 0.700 | 1.000 | 3 | 1999 | 2012 | |||
|
2 | 0.925 | 0.120 | 16 | 89791459 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 3 | 2004 | 2017 | |||
|
2 | 0.925 | 0.120 | 9 | 35075278 | splice donor variant | C/A;G | snv | 2.0E-05 | 0.700 | 1.000 | 3 | 1998 | 2012 | ||||
|
1 | 1.000 | 0.120 | 9 | 95107197 | frameshift variant | AGGTCCTGGGC/- | delins | 0.700 | 1.000 | 3 | 1993 | 2014 | |||||
|
2 | 0.925 | 0.120 | 16 | 89740842 | inframe deletion | GAA/- | delins | 1.0E-04 | 9.8E-05 | 0.700 | 1.000 | 3 | 1997 | 2011 | |||
|
2 | 0.925 | 0.120 | 2 | 58161533 | inframe deletion | ATA/- | del | 3.3E-04 | 0.700 | 1.000 | 3 | 2009 | 2016 | ||||
|
2 | 0.925 | 0.120 | 16 | 89745026 | frameshift variant | -/C | delins | 1.2E-05 | 2.8E-05 | 0.700 | 1.000 | 3 | 1997 | 2014 | |||
|
2 | 0.925 | 0.120 | 9 | 35076030 | splice acceptor variant | T/C | snv | 1.6E-05 | 0.700 | 1.000 | 3 | 2000 | 2017 | ||||
|
3 | 0.882 | 0.120 | 9 | 95101723 | missense variant | A/G | snv | 1.2E-05 | 2.1E-05 | 0.020 | 1.000 | 2 | 1993 | 1996 |