| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 |
|
0.900 | 0.988 | 81 | 1997 | 2020 | ||||||||
|
0.742 | 0.560 | 16 | 3243447 | missense variant | C/A;G;T | snv | 1.0E-04; 8.0E-06 |
|
0.890 | 1.000 | 46 | 1997 | 2016 | ||||||||
|
0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 |
|
0.800 | 0.972 | 36 | 1999 | 2020 | ||||||||
|
0.732 | 0.440 | 16 | 3243310 | missense variant | A/G;T | snv | 2.2E-03; 4.0E-06 |
|
0.900 | 1.000 | 33 | 1997 | 2019 | ||||||||
|
0.925 | 0.040 | 16 | 3243257 | missense variant | C/A;T | snv | 1.8E-03; 1.2E-05 |
|
0.820 | 1.000 | 28 | 1998 | 2018 | ||||||||
|
0.851 | 0.320 | 16 | 3243403 | missense variant | T/A;C | snv | 8.0E-06; 5.2E-03 |
|
0.810 | 1.000 | 16 | 1998 | 2016 | ||||||||
|
0.925 | 0.040 | 16 | 3243404 | inframe deletion | CAT/- | delins |
|
0.700 | 1.000 | 14 | 1998 | 2017 | |||||||||
|
0.925 | 0.200 | 16 | 3247166 | missense variant | G/C;T | snv | 4.0E-05; 1.2E-05 |
|
0.800 | 1.000 | 9 | 1998 | 2015 | ||||||||
|
0.827 | 0.320 | 16 | 3249586 | missense variant | G/A;T | snv | 1.5E-02; 4.0E-05 |
|
0.860 | 1.000 | 9 | 2008 | 2017 | ||||||||
|
1.000 | 0.040 | 16 | 3243409 | inframe deletion | TAT/- | delins |
|
0.700 | 1.000 | 8 | 1998 | 2015 | |||||||||
|
0.882 | 0.160 | 16 | 3243593 | missense variant | C/A;T | snv | 3.7E-05 |
|
0.800 | 1.000 | 8 | 2007 | 2015 | ||||||||
|
0.925 | 0.080 | 16 | 3249468 | missense variant | C/A;T | snv | 1.6E-05; 1.3E-02 |
|
0.840 | 1.000 | 6 | 1999 | 2016 | ||||||||
|
1.000 | 0.040 | 16 | 3256338 | missense variant | C/G;T | snv | 8.0E-06; 1.1E-04 |
|
0.700 | 1.000 | 6 | 2008 | 2015 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.050 | 1.000 | 5 | 2011 | 2014 | ||||||||
|
1.000 | 0.040 | 16 | 3243442 | frameshift variant | AG/- | delins |
|
0.700 | 1.000 | 4 | 1998 | 2015 | |||||||||
|
0.925 | 0.080 | 20 | 18525021 | splice donor variant | G/A;C | snv | 2.4E-05; 8.0E-06 |
|
0.700 | 1.000 | 3 | 2009 | 2014 | ||||||||
|
0.882 | 0.160 | 16 | 3254380 | missense variant | C/G;T | snv | 6.3E-04 |
|
0.700 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
1.000 | 0.040 | 16 | 3243520 | missense variant | T/G | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
1.000 | 0.040 | 16 | 3243463 | missense variant | C/T | snv |
|
0.700 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
1.000 | 0.040 | 16 | 3243449 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
1.000 | 0.040 | 16 | 3243445 | missense variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
1.000 | 0.040 | 16 | 3243377 | missense variant | C/T | snv | 3.2E-05 |
|
0.700 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
1.000 | 0.040 | 16 | 3254746 | missense variant | T/C;G | snv | 8.1E-06; 8.1E-06 |
|
0.700 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
1.000 | 0.040 | 16 | 3254580 | missense variant | T/C;G | snv | 4.9E-06 |
|
0.700 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
1.000 | 0.040 | 16 | 3243541 | missense variant | A/G | snv |
|
0.700 | 1.000 | 2 | 2013 | 2015 |