| 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 | 10 | 87961033 | stop gained | -/ATATCTAG | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.966 | 29 | 2003 | 2018 | |||||||||
|
0.882 | 0.080 | 13 | 32319111 | frameshift variant | -/C | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.763 | 0.120 | 10 | 87864059 | 5 prime UTR variant | -/G | delins | 7.2E-06 |
|
0.030 | 1.000 | 3 | 2001 | 2015 | ||||||||
|
0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 10 | 87952168 | frameshift variant | -/T | delins |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
1.000 | 0.040 | 5 | 122074125 | stop gained | -/TACATGCTAGATTCATTTTAACTCAATACTGCCATTCAATTCTAGCAAC | ins | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins |
|
0.030 | 1.000 | 3 | 2015 | 2016 | |||||||||
|
1.000 | 0.120 | 9 | 111594264 | frameshift variant | A/- | del | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||
|
10 | 87960962 | frameshift variant | A/- | del |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.080 | 19 | 14097604 | missense variant | A/C | snv |
|
0.020 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
0.742 | 0.160 | 19 | 45408744 | missense variant | A/C | snv | 0.21 | 0.20 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | |||||||
|
0.776 | 0.120 | 2 | 29220830 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 2 | 29222404 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | 2 | 211377467 | 3 prime UTR variant | A/C | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
3 | 138699042 | missense variant | A/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 119547946 | intron variant | A/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.120 | 16 | 71714618 | missense variant | A/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.807 | 0.120 | 11 | 48123823 | missense variant | A/C | snv | 0.17 | 0.15 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.925 | 0.080 | 13 | 32398875 | 3 prime UTR variant | A/C | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.080 | 10 | 62501439 | intron variant | A/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 4 | 68670366 | missense variant | A/C | snv | 0.51 | 0.53 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.827 | 0.120 | 7 | 20164512 | intron variant | A/C | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |