| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 16 | 3254567 | missense variant | C/G | snv | 4.4E-05 | 3.5E-05 |
|
0.800 | 0 | ||||||||||
|
1.000 | 0.040 | 16 | 3243423 | stop gained | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 16 | 3243149 | missense variant | G/T | snv | 3.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 16 | 3243880 | missense variant | A/G | snv | 1.1E-02 | 1.0E-02 |
|
0.800 | 0 | ||||||||||
|
1.000 | 0.040 | 16 | 3254632 | stop gained | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 16 | 3254658 | frameshift variant | C/- | delins |
|
0.010 | < 0.001 | 1 | 2001 | 2001 | |||||||||
|
0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 |
|
0.800 | 0.972 | 36 | 1999 | 2020 | ||||||||
|
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 | ||||||||
|
0.716 | 0.400 | 16 | 3243405 | missense variant | C/T | snv | 1.4E-04 | 6.3E-05 |
|
0.900 | 1.000 | 36 | 1997 | 2017 | |||||||
|
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 | ||||||||
|
0.925 | 0.040 | 16 | 3243205 | missense variant | C/T | snv | 2.0E-04 | 1.1E-04 |
|
0.850 | 1.000 | 27 | 1998 | 2020 | |||||||
|
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 | ||||||||
|
1.000 | 0.040 | 16 | 3243529 | missense variant | C/T | snv | 3.2E-05 | 7.0E-05 |
|
0.800 | 1.000 | 14 | 2001 | 2016 | |||||||
|
0.925 | 0.040 | 16 | 3243404 | inframe deletion | CAT/- | delins |
|
0.700 | 1.000 | 14 | 1998 | 2017 | |||||||||
|
1.000 | 0.040 | 16 | 3243872 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 10 | 1997 | 2014 | |||||||
|
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 | ||||||||
|
0.724 | 0.440 | 16 | 3254463 | missense variant | C/T | snv | 0.24 | 0.21 |
|
0.080 | 1.000 | 8 | 2007 | 2019 | |||||||
|
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 | ||||||||
|
1.000 | 0.040 | 16 | 3243442 | frameshift variant | AG/- | delins |
|
0.700 | 1.000 | 4 | 1998 | 2015 |