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 | 0.080 | 3 | 15645345 | missense variant | C/T | snv | 2.4E-05 | 1.1E-04 | 0.700 | 1.000 | 11 | 1999 | 2016 | |||
|
1 | 1.000 | 0.080 | 3 | 15644611 | missense variant | A/G | snv | 4.4E-05 | 5.6E-05 | 0.700 | 1.000 | 9 | 1999 | 2017 | |||
|
1 | 1.000 | 0.080 | 3 | 15644413 | missense variant | G/A | snv | 2.0E-05 | 0.700 | 1.000 | 9 | 2000 | 2018 | ||||
|
1 | 1.000 | 0.080 | 3 | 15644789 | frameshift variant | T/- | del | 4.2E-05 | 0.700 | 1.000 | 8 | 1997 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 15644451 | missense variant | G/A | snv | 2.0E-05 | 2.8E-05 | 0.700 | 1.000 | 7 | 2003 | 2017 | |||
|
1 | 1.000 | 0.080 | 3 | 15635479 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 | 0.700 | 1.000 | 6 | 1997 | 2017 | |||
|
1 | 1.000 | 0.080 | 3 | 15644443 | frameshift variant | C/- | del | 0.700 | 1.000 | 6 | 1997 | 2014 | |||||
|
1 | 1.000 | 0.080 | 3 | 15644499 | missense variant | C/G;T | snv | 8.0E-06; 2.0E-05 | 0.700 | 1.000 | 6 | 1997 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 15635657 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2003 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 15645195 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2008 | 2015 | ||||
|
1 | 1.000 | 0.080 | 3 | 15645485 | missense variant | C/A;G | snv | 5.9E-05; 4.2E-06 | 0.700 | 1.000 | 4 | 2012 | 2016 | ||||
|
1 | 1.000 | 0.080 | 3 | 15641939 | missense variant | G/T | snv | 1.2E-05 | 0.700 | 1.000 | 4 | 2005 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 15642022 | missense variant | C/A | snv | 0.700 | 1.000 | 4 | 2009 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 15644384 | missense variant | G/T | snv | 9.5E-05 | 2.1E-05 | 0.700 | 1.000 | 4 | 1999 | 2016 | |||
|
1 | 1.000 | 0.080 | 3 | 15644482 | missense variant | G/A | snv | 2.4E-05 | 7.0E-05 | 0.700 | 1.000 | 4 | 2014 | 2016 | |||
|
1 | 1.000 | 0.080 | 3 | 15644487 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.700 | 1.000 | 3 | 1999 | 2015 | |||
|
1 | 1.000 | 0.080 | 3 | 15644485 | missense variant | A/G | snv | 0.700 | 1.000 | 3 | 1997 | 2015 | |||||
|
1 | 1.000 | 0.080 | 3 | 15644590 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 3 | 2005 | 2017 | |||
|
1 | 1.000 | 0.080 | 3 | 15642057 | splice region variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 1997 | 2002 | ||||
|
1 | 1.000 | 0.080 | 3 | 15645095 | inframe deletion | ATCTCCACGTCT/- | delins | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 1997 | 2016 | |||
|
1 | 1.000 | 0.080 | 3 | 15645346 | frameshift variant | -/T | delins | 0.700 | 1.000 | 3 | 2007 | 2018 | |||||
|
1 | 1.000 | 0.080 | 3 | 15644557 | missense variant | C/G;T | snv | 4.0E-06; 3.2E-05 | 0.700 | 1.000 | 3 | 2014 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 15645083 | frameshift variant | GGGAAAGGAAGGCTA/NNNNNNNNNNN;TTCCAATGGCC | delins | 0.700 | 1.000 | 3 | 1996 | 2001 | |||||
|
1 | 1.000 | 0.080 | 3 | 15635571 | frameshift variant | -/ATCC | delins | 0.700 | 1.000 | 2 | 2007 | 2012 | |||||
|
1 | 1.000 | 0.080 | 3 | 15645288 | missense variant | G/A;C | snv | 8.0E-06; 1.6E-05 | 0.700 | 1.000 | 2 | 2009 | 2016 |