| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.280 | 18 | 51065548 | missense variant | C/A;G;T | snv |
|
0.800 | 1.000 | 13 | 1997 | 2016 | |||||||||
|
0.851 | 0.480 | 18 | 51067121 | frameshift variant | CAGA/- | delins |
|
0.700 | 1.000 | 12 | 1998 | 2017 | |||||||||
|
1.000 | 0.120 | 18 | 51078354 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 11 | 2000 | 2013 | |||||||||
|
0.742 | 0.520 | 18 | 51065549 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 8 | 1998 | 2016 | |||||||||
|
1.000 | 0.120 | 10 | 86890109 | frameshift variant | -/A | ins |
|
0.700 | 1.000 | 7 | 2001 | 2013 | |||||||||
|
1.000 | 0.120 | 18 | 51076734 | frameshift variant | -/CCCT | delins |
|
0.700 | 1.000 | 6 | 1997 | 2012 | |||||||||
|
1.000 | 0.120 | 18 | 51076670 | frameshift variant | AGCAGCAGGCGGCTACTGCACAAGC/- | delins |
|
0.700 | 1.000 | 5 | 1997 | 2012 | |||||||||
|
1.000 | 0.120 | 18 | 51049326 | splice donor variant | T/C | snv |
|
0.700 | 1.000 | 3 | 2005 | 2012 | |||||||||
|
1.000 | 0.120 | 18 | 51059916 | splice donor variant | G/- | delins |
|
0.700 | 1.000 | 3 | 2005 | 2012 | |||||||||
|
1.000 | 0.120 | 18 | 51076637 | splice acceptor variant | G/A | snv |
|
0.700 | 1.000 | 3 | 2005 | 2012 | |||||||||
|
1.000 | 0.120 | 10 | 86756638 | splice donor variant | CGGCCGCTGCAGAGATTGGAATCCGCCTGCCGGGCTTGGCGAAGGAGAAGGGAGGAGGCAGGAGCGAGGAGGGAGGAGGGCCAAGGGCGGGCAGGAAGGCTTAGGCTCGGCGCGTCCGTCCGCGCGCGGCGAAGATCGCACGGCCCGATCGAGGGGCGACCGGGTCGGGGCCGCTGCACGCCAAGGGCGAAGGCCGATTCGGGCCCCACTTCGCCCCGGCGGCTCGCCGCGCCCACCCGCTCCGCGCCGAGGGCTGGAGGATGCGTTCCCTGGGGTCCGGG/- | delins |
|
0.700 | 1.000 | 3 | 2010 | 2012 | |||||||||
|
1.000 | 0.120 | 18 | 51067017 | splice acceptor variant | A/C | snv |
|
0.700 | 1.000 | 3 | 2005 | 2012 | |||||||||
|
1.000 | 0.120 | 18 | 51067188 | splice donor variant | G/A;T | snv |
|
0.700 | 1.000 | 3 | 2005 | 2012 | |||||||||
|
1.000 | 0.120 | 18 | 51076778 | splice donor variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2006 | 2012 | |||||||||
|
1.000 | 0.120 | 10 | 86919236 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 2 | 2001 | 2002 | |||||||||
|
1.000 | 0.120 | 10 | 86876060 | frameshift variant | TGTT/- | delins |
|
0.700 | 1.000 | 2 | 2001 | 2013 | |||||||||
|
1.000 | 0.120 | 10 | 86892126 | splice acceptor variant | G/C | snv |
|
0.700 | 1.000 | 2 | 2001 | 2002 | |||||||||
|
1.000 | 0.120 | 10 | 86919170 | splice acceptor variant | AGGTT/- | del |
|
0.700 | 1.000 | 2 | 2001 | 2002 | |||||||||
|
1.000 | 0.120 | 18 | 51048839 | stop gained | C/T | snv |
|
0.700 | 1.000 | 2 | 2006 | 2007 | |||||||||
|
1.000 | 0.120 | 10 | 86917275 | stop gained | C/T | snv |
|
0.700 | 1.000 | 2 | 2001 | 2009 | |||||||||
|
1.000 | 0.120 | 10 | 86876019 | start lost | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2009 | 2013 | |||||||||
|
1.000 | 0.120 | 18 | 51078334 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.120 | 18 | 51076736 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.120 | 10 | 86912382 | frameshift variant | T/- | delins |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
1.000 | 0.120 | 18 | 51078380 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2004 | 2004 |