| 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 | 17 | 43063940 | missense variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2003 | 2006 | |||||||||
|
0.851 | 0.160 | 17 | 43094550 | frameshift variant | GT/- | delins |
|
0.020 | 1.000 | 2 | 2010 | 2015 | |||||||||
|
0.752 | 0.240 | 17 | 43094464 | frameshift variant | T/- | del |
|
0.020 | 0.500 | 2 | 2002 | 2008 | |||||||||
|
0.925 | 0.080 | 17 | 43106513 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.776 | 0.160 | 17 | 43126360 | intron variant | G/A | snv | 0.31 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 17 | 43093409 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.080 | 17 | 43045746 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.080 | 17 | 43094258 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.080 | 17 | 43094626 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 17 | 43082287 | intron variant | C/T | snv | 6.9E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 17 | 43063912 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.280 | 17 | 43092919 | frameshift variant | G/AA | delins |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.882 | 0.080 | 17 | 43092674 | frameshift variant | AA/- | delins |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.851 | 0.200 | 17 | 43076573 | stop gained | G/A | snv |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||||
|
0.882 | 0.080 | 17 | 43070984 | stop gained | C/A | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.080 | 17 | 43051093 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 17 | 43049149 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 17 | 43063340 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.851 | 0.080 | 17 | 43091030 | stop gained | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.827 | 0.160 | 17 | 43115759 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.080 | 17 | 43093612 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 17 | 43074454 | stop gained | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.925 | 0.080 | 17 | 43091520 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.827 | 0.160 | 17 | 43099853 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.851 | 0.200 | 17 | 43045759 | stop gained | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 |