| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 18 | 60371970 | missense variant | G/A | snv | 1.7E-04 | 7.7E-05 |
|
0.810 | 1.000 | 0 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 18 | 60371593 | missense variant | C/T | snv | 5.6E-05 | 1.3E-04 |
|
0.810 | 1.000 | 0 | 2007 | 2007 | |||||||
|
0.882 | 0.080 | 18 | 60371403 | missense variant | A/C | snv | 2.0E-05 | 1.4E-05 |
|
0.800 | 1.000 | 5 | 2003 | 2015 | |||||||
|
1.000 | 0.080 | 18 | 60371538 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.800 | 0 | |||||||||||
|
1.000 | 0.080 | 18 | 60371827 | missense variant | C/T | snv | 5.4E-04 | 3.0E-04 |
|
0.800 | 0 | ||||||||||
|
0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 |
|
0.800 | 0.843 | 0 | 1995 | 2019 | |||||||
|
1.000 | 0.080 | 5 | 71719903 | missense variant | G/C | snv | 1.3E-04 | 6.3E-05 |
|
0.720 | 1.000 | 0 | 2006 | 2006 | |||||||
|
0.882 | 0.200 | 3 | 10289835 | missense variant | C/T | snv | 7.0E-03 | 7.3E-03 |
|
0.710 | 1.000 | 0 | 2002 | 2002 | |||||||
|
0.742 | 0.360 | 3 | 10286769 | missense variant | T/A | snv | 0.10 | 6.6E-02 |
|
0.710 | < 0.001 | 0 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 18 | 60371901 | missense variant | G/A | snv | 7.2E-05 | 2.8E-05 |
|
0.710 | 1.000 | 0 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 18 | 60371544 | missense variant | A/T | snv | 1.0E-03 | 1.1E-04 |
|
0.710 | 1.000 | 0 | 2020 | 2020 | |||||||
|
1.000 | 0.080 | 18 | 60372245 | stop gained | G/T | snv | 6.8E-05 | 1.3E-04 |
|
0.700 | 1.000 | 11 | 1999 | 2011 | |||||||
|
1.000 | 0.080 | 18 | 60371856 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 |
|
0.700 | 1.000 | 8 | 2000 | 2014 | |||||||
|
0.882 | 0.120 | 8 | 38253642 | missense variant | G/C | snv | 6.0E-05 | 6.3E-05 |
|
0.700 | 1.000 | 4 | 2012 | 2014 | |||||||
|
0.882 | 0.160 | 15 | 89327329 | frameshift variant | AG/- | delins | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2003 | 2008 | |||||||
|
0.882 | 0.160 | 9 | 6589230 | missense variant | C/G;T | snv | 8.7E-05; 2.3E-02 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.807 | 0.320 | 2 | 73451171 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.160 | 15 | 76574190 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.763 | 0.360 | 16 | 68329105 | stop gained | G/C;T | snv | 4.0E-06; 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 3 | 97787991 | frameshift variant | TAT/GAAAA | delins |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.320 | 20 | 58891811 | stop gained | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 7 | 150951711 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.360 | 16 | 68355785 | stop gained | C/A | snv | 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 166048938 | inframe deletion | AAT/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 1 | 65636397 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 |
|
0.700 | 0 |