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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.080 | 19 | 55151892 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 13 | 2003 | 2013 | |||||||||
|
0.882 | 0.080 | 19 | 55154109 | missense variant | G/A | snv |
|
0.700 | 1.000 | 12 | 2003 | 2017 | |||||||||
|
0.827 | 0.080 | 19 | 55151892 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 11 | 2003 | 2013 | |||||||||
|
0.851 | 0.120 | 19 | 55154157 | missense variant | C/T | snv | 4.2E-05 |
|
0.700 | 1.000 | 11 | 2003 | 2017 | ||||||||
|
0.851 | 0.120 | 19 | 55154157 | missense variant | C/T | snv | 4.2E-05 |
|
0.700 | 1.000 | 11 | 2003 | 2014 | ||||||||
|
0.851 | 0.120 | 19 | 55151910 | missense variant | C/T | snv | 7.0E-06 |
|
0.710 | 0.909 | 11 | 2003 | 2017 | ||||||||
|
0.827 | 0.080 | 19 | 55151892 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 10 | 2003 | 2015 | |||||||||
|
0.851 | 0.120 | 19 | 55151910 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 1.000 | 7 | 2003 | 2017 | ||||||||
|
0.925 | 0.080 | 19 | 55154045 | inframe deletion | TTC/- | delins |
|
0.700 | 1.000 | 4 | 2003 | 2017 | |||||||||
|
0.882 | 0.080 | 19 | 55154109 | missense variant | G/A | snv |
|
0.700 | 1.000 | 4 | 2003 | 2009 | |||||||||
|
0.807 | 0.080 | 19 | 55154071 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 4 | 2009 | 2015 | |||||||||
|
19 | 55154035 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 3 | 2012 | 2017 | |||||||||||
|
0.827 | 0.120 | 19 | 55154070 | missense variant | C/T | snv |
|
0.700 | 1.000 | 3 | 2009 | 2017 | |||||||||
|
0.925 | 0.080 | 19 | 55154045 | inframe deletion | TTC/- | delins |
|
0.700 | 1.000 | 2 | 2003 | 2008 | |||||||||
|
1.000 | 0.040 | 19 | 55151893 | missense variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2010 | 2011 | |||||||||
|
0.827 | 0.120 | 19 | 55154070 | missense variant | C/T | snv |
|
0.710 | 1.000 | 2 | 2007 | 2016 | |||||||||
|
0.827 | 0.120 | 19 | 55154070 | missense variant | C/T | snv |
|
0.700 | 1.000 | 2 | 2007 | 2009 | |||||||||
|
1.000 | 0.080 | 19 | 55154175 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
19 | 55151917 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1.000 | 0.040 | 19 | 55151899 | missense variant | C/A | snv |
|
0.700 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.807 | 0.080 | 19 | 55154071 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 19 | 55151865 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.080 | 19 | 55151851 | missense variant | T/C;G | snv |
|
0.800 | 1.000 | 0 | 1997 | 2017 | |||||||||
|
0.925 | 0.040 | 19 | 55151898 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 19 | 55151898 | missense variant | T/C | snv |
|
0.700 | 0 |