| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.120 | 5 | 1393745 | 3 prime UTR variant | -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC | delins | 8.1E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 19 | 44914381 | 5 prime UTR variant | -/CGTT | delins |
|
0.020 | 1.000 | 2 | 2014 | 2019 | |||||||||
|
0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins |
|
0.030 | 1.000 | 3 | 2009 | 2016 | |||||||||
|
1.000 | 0.080 | 10 | 49625580 | frameshift variant | A/- | del | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.120 | 8 | 134599702 | non coding transcript exon variant | A/C | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 10 | 67521827 | intron variant | A/C | snv | 0.16 | 0.13 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.200 | 17 | 34320812 | missense variant | A/C | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 19 | 44908634 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 21 | 26022022 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.280 | 6 | 41161277 | missense variant | A/C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.120 | 14 | 73192840 | missense variant | A/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 3 | 9757233 | missense variant | A/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 21 | 26021995 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 14 | 64249911 | intron variant | A/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.790 | 0.200 | 17 | 45815154 | intron variant | A/C | snv | 0.62 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.716 | 0.360 | 15 | 51210647 | 3 prime UTR variant | A/C | snv | 0.67 | 0.70 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 1 | 207629207 | intron variant | A/C | snv | 0.87 |
|
0.710 | 1.000 | 1 | 2011 | 2012 | ||||||||
|
0.851 | 0.080 | 21 | 25891783 | missense variant | A/C | snv |
|
0.710 | 1.000 | 1 | 1991 | 2005 | |||||||||
|
0.790 | 0.240 | 14 | 73192647 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.925 | 0.080 | 14 | 73192828 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 0.080 | 6 | 61987841 | intron variant | A/C | snv | 0.79 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 7 | 55147325 | intron variant | A/C | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 19 | 44916825 | intron variant | A/C | snv | 8.6E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 3 | 184277413 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 |