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 | 0.080 | 1 | 179559711 | missense variant | G/A | snv | 0.800 | 1.000 | 16 | 2000 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 179551304 | missense variant | G/A | snv | 0.700 | 1.000 | 14 | 2000 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 179561315 | missense variant | A/G | snv | 0.700 | 1.000 | 14 | 2000 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 179561324 | missense variant | A/C | snv | 7.0E-06 | 0.700 | 1.000 | 14 | 2000 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 179575591 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 14 | 2000 | 2015 | |||||
|
2 | 0.925 | 0.080 | 1 | 179559734 | missense variant | T/A;C | snv | 0.800 | 1.000 | 14 | 2000 | 2015 | |||||
|
2 | 0.925 | 0.080 | 1 | 179559746 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 7 | 2004 | 2017 | |||||
|
2 | 0.925 | 0.080 | 1 | 179557231 | splice acceptor variant | C/A | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 2002 | 2006 | ||||
|
2 | 0.925 | 0.080 | 1 | 179552602 | splice donor variant | C/T | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
2 | 0.925 | 0.080 | 1 | 179561287 | splice donor variant | A/T | snv | 0.700 | 1.000 | 2 | 2004 | 2014 | |||||
|
2 | 0.925 | 0.080 | 1 | 179552601 | splice donor variant | A/T | snv | 1.4E-05 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||
|
2 | 0.925 | 0.080 | 1 | 179575722 | frameshift variant | -/AGCCC | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.080 | 1 | 179575709 | frameshift variant | C/- | delins | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 1 | 179575616 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 3 | 119782551 | intron variant | GAGAAG/-;GAGAAGGAGAAG | delins | 0.35 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
40 | 0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 1 | 179551453 | splice acceptor variant | T/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 179564699 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 179552682 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 179575862 | start lost | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 179575769 | frameshift variant | -/TA | ins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 179552617 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 179559762 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 179575699 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 179557025 | splice donor variant | A/G | snv | 0.700 | 0 |