| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 7 | 44153325 | missense variant | C/T | snv |
|
0.720 | 1.000 | 8 | 1998 | 2016 | |||||||||
|
0.925 | 0.080 | 7 | 44149977 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 12 | 2000 | 2012 | ||||||||
|
0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 12 | 1991 | 2013 | |||||||||
|
0.925 | 0.080 | 12 | 120997492 | frameshift variant | CA/- | delins | 4.0E-06 |
|
0.700 | 1.000 | 7 | 1997 | 2014 | ||||||||
|
0.925 | 0.080 | 20 | 44424123 | missense variant | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 6 | 2000 | 2016 | ||||||||
|
0.807 | 0.200 | 12 | 120994265 | missense variant | G/A | snv |
|
0.700 | 1.000 | 6 | 1997 | 2009 | |||||||||
|
0.851 | 0.080 | 7 | 44153381 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 6 | 2002 | 2014 | ||||||||
|
0.925 | 0.080 | 7 | 44145173 | missense variant | G/A;T | snv | 4.2E-06 |
|
0.700 | 1.000 | 5 | 2003 | 2012 | ||||||||
|
0.925 | 0.080 | 11 | 2159907 | missense variant | T/C | snv |
|
0.700 | 1.000 | 5 | 2007 | 2015 | |||||||||
|
0.925 | 0.080 | 11 | 2159895 | missense variant | G/C | snv |
|
0.700 | 1.000 | 5 | 2007 | 2015 | |||||||||
|
0.807 | 0.280 | 1 | 156136009 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 1.000 | 5 | 1990 | 2013 | ||||||||
|
0.882 | 0.080 | 7 | 44147834 | splice acceptor variant | C/T | snv |
|
0.700 | 1.000 | 4 | 2003 | 2009 | |||||||||
|
0.925 | 0.080 | 12 | 120993686 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 4 | 2000 | 2013 | |||||||||
|
0.925 | 0.080 | 20 | 44414663 | splice donor variant | G/A | snv |
|
0.700 | 1.000 | 4 | 1977 | 2013 | |||||||||
|
0.925 | 0.040 | 11 | 17387395 | missense variant | G/A | snv |
|
0.700 | 1.000 | 4 | 2011 | 2016 | |||||||||
|
0.925 | 0.080 | 20 | 44407421 | stop gained | C/T | snv |
|
0.700 | 1.000 | 4 | 2000 | 2013 | |||||||||
|
0.882 | 0.120 | 18 | 60371884 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 1999 | 2017 | ||||||||
|
0.925 | 0.080 | 7 | 44145190 | frameshift variant | G/- | del |
|
0.700 | 1.000 | 3 | 2003 | 2009 | |||||||||
|
0.882 | 0.080 | 7 | 44145495 | splice donor variant | A/T | snv |
|
0.700 | 1.000 | 3 | 2003 | 2009 | |||||||||
|
0.925 | 0.080 | 7 | 44146466 | missense variant | T/C | snv |
|
0.700 | 1.000 | 3 | 2006 | 2011 | |||||||||
|
0.882 | 0.080 | 7 | 44147765 | missense variant | G/A | snv |
|
0.700 | 1.000 | 3 | 2007 | 2009 | |||||||||
|
0.925 | 0.080 | 7 | 44153396 | missense variant | T/G | snv |
|
0.700 | 1.000 | 3 | 2000 | 2014 | |||||||||
|
0.925 | 0.080 | 12 | 120996261 | splice acceptor variant | G/A;C | snv |
|
0.700 | 1.000 | 3 | 2009 | 2013 | |||||||||
|
0.882 | 0.080 | 7 | 44147726 | missense variant | A/G | snv | 7.0E-06 |
|
0.700 | 1.000 | 3 | 2002 | 2012 | ||||||||
|
0.925 | 0.080 | 7 | 44147795 | missense variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2008 | 2015 |