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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.080 | 0.875 | 8 | 2009 | 2015 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.080 | 0.875 | 8 | 2009 | 2015 | |||||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.160 | 16 | 68736944 | upstream gene variant | A/- | del | 0.80 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.200 | 3 | 37025648 | frameshift variant | A/- | del |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.882 | 0.160 | 2 | 25247708 | frameshift variant | TTTCC/- | del |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.827 | 0.240 | 5 | 132680652 | intron variant | ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/- | del |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 |
|
0.020 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins |
|
0.020 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
0.776 | 0.160 | 19 | 40798690 | intron variant | -/TACT | delins |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 14 | 35405503 | upstream gene variant | A/- | delins |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 4 | 112648384 | mature miRNA variant | ACTT/- | delins | 2.1E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.708 | 0.240 | 5 | 83142293 | intron variant | GATGAGGAAACTAACTCTCAGTGGTGTTTA/- | delins | 0.48 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.776 | 0.200 | 18 | 657657 | 5 prime UTR variant | GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.120 | 15 | 74750069 | frameshift variant | CT/- | delins | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.672 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 |
|
0.800 | 0.971 | 31 | 2009 | 2019 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.870 | 23 | 2005 | 2018 | |||||||
|
0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 |
|
0.100 | 1.000 | 16 | 2010 | 2019 | |||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.100 | 0.750 | 16 | 2002 | 2018 | |||||||
|
0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 |
|
0.800 | 1.000 | 16 | 2010 | 2018 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.100 | 0.733 | 15 | 2010 | 2017 |