| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.240 | X | 67722872 | missense variant | G/A | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.240 | X | 67722899 | missense variant | G/A;T | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.160 | X | 67643401 | missense variant | G/A | snv | 5.7E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.752 | 0.320 | X | 67686030 | missense variant | G/A | snv | 9.4E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | X | 67546514 | frameshift variant | -/CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG | delins |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.763 | 0.240 | X | 67545785 | synonymous variant | G/A | snv | 0.15 | 0.28 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.763 | 0.240 | X | 67545785 | synonymous variant | G/A | snv | 0.15 | 0.28 |
|
0.020 | 1.000 | 2 | 2010 | 2015 | |||||||
|
0.925 | 0.160 | X | 67721937 | missense variant | T/C | snv |
|
0.020 | 1.000 | 2 | 1999 | 2002 | |||||||||
|
0.882 | 0.200 | X | 67717595 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 1995 | 1995 | |||||||||
|
0.851 | 0.160 | X | 67711453 | missense variant | C/A | snv | 1.1E-03 | 1.2E-03 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | X | 67711447 | missense variant | G/C | snv | 6.2E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv |
|
0.020 | 1.000 | 2 | 2003 | 2005 | |||||||||
|
0.925 | 0.160 | X | 67643387 | missense variant | T/A | snv |
|
0.720 | 1.000 | 2 | 2004 | 2005 | |||||||||
|
0.851 | 0.240 | X | 67722872 | missense variant | G/A | snv |
|
0.720 | 0.800 | 2 | 1990 | 2019 | |||||||||
|
0.827 | 0.240 | X | 67722899 | missense variant | G/A;T | snv |
|
0.820 | 0.969 | 2 | 1992 | 2019 | |||||||||
|
1.000 | 0.160 | X | 67685960 | missense variant | C/T | snv | 5.5E-06 | 9.5E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.827 | 0.240 | X | 67722976 | missense variant | G/A;T | snv |
|
0.810 | 1.000 | 1 | 1992 | 2016 | |||||||||
|
0.882 | 0.200 | X | 67722898 | missense variant | C/T | snv |
|
0.810 | 1.000 | 1 | 1992 | 2009 | |||||||||
|
1.000 | 0.160 | X | 67643378 | missense variant | G/A;T | snv |
|
0.810 | 1.000 | 1 | 1992 | 2005 | |||||||||
|
0.925 | 0.160 | X | 67717535 | missense variant | G/A;T | snv |
|
0.810 | 1.000 | 1 | 1992 | 2004 | |||||||||
|
0.925 | 0.160 | X | 67643283 | missense variant | G/A;T | snv | 1.8E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.160 | X | 67546470 | stop gained | G/A;T | snv |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||||
|
0.882 | 0.200 | X | 67723690 | missense variant | C/T | snv | 1.1E-05 | 9.6E-06 |
|
0.710 | 1.000 | 1 | 1996 | 2002 | |||||||
|
1.000 | 0.160 | X | 67721951 | missense variant | C/T | snv |
|
0.710 | 1.000 | 1 | 1992 | 2004 | |||||||||
|
1.000 | 0.160 | X | 67546570 | missense variant | C/T | snv | 1.5E-03 | 1.1E-03 |
|
0.010 | 1.000 | 1 | 2008 | 2008 |