| 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 | 0.200 | 3 | 10142097 | missense variant | G/A;C;T | snv | 4.4E-06 |
|
0.800 | 1.000 | 9 | 1995 | 2017 | ||||||||
|
0.807 | 0.200 | 3 | 10149805 | missense variant | G/A | snv |
|
0.850 | 1.000 | 9 | 1995 | 2017 | |||||||||
|
0.925 | 0.160 | 3 | 10142187 | missense variant | G/A;C | snv |
|
0.800 | 1.000 | 9 | 1993 | 2017 | |||||||||
|
0.882 | 0.200 | 3 | 10142038 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 8 | 1998 | 2014 | |||||||||
|
0.882 | 0.200 | 3 | 10146528 | missense variant | T/C | snv |
|
0.800 | 1.000 | 8 | 1993 | 2017 | |||||||||
|
1.000 | 0.120 | 3 | 10149786 | splice acceptor variant | G/A;C;T | snv |
|
0.700 | 1.000 | 8 | 1994 | 2007 | |||||||||
|
1.000 | 0.120 | 3 | 10146518 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 8 | 1995 | 2015 | |||||||||
|
1.000 | 0.120 | 3 | 10149807 | missense variant | T/C | snv |
|
0.800 | 1.000 | 7 | 1993 | 2017 | |||||||||
|
0.827 | 0.200 | 3 | 10142041 | stop gained | C/A;G;T | snv |
|
0.800 | 1.000 | 7 | 1994 | 2017 | |||||||||
|
0.925 | 0.240 | 3 | 10149796 | missense variant | T/A;C | snv |
|
0.800 | 1.000 | 6 | 1993 | 2017 | |||||||||
|
1.000 | 0.120 | 3 | 10149848 | stop gained | C/G | snv |
|
0.700 | 1.000 | 6 | 1995 | 2008 | |||||||||
|
0.925 | 0.160 | 3 | 10146561 | missense variant | G/C;T | snv |
|
0.800 | 1.000 | 5 | 1993 | 2017 | |||||||||
|
1.000 | 0.120 | 3 | 10146568 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 5 | 1999 | 2009 | ||||||||
|
1.000 | 0.120 | 3 | 10146579 | frameshift variant | T/- | delins |
|
0.700 | 1.000 | 5 | 1999 | 2011 | |||||||||
|
0.851 | 0.280 | 3 | 10142166 | missense variant | C/G;T | snv | 4.5E-06 |
|
0.700 | 1.000 | 4 | 2002 | 2013 | ||||||||
|
0.925 | 0.160 | 3 | 10149809 | stop gained | C/A;G | snv |
|
0.700 | 1.000 | 4 | 1999 | 2007 | |||||||||
|
0.925 | 0.160 | 3 | 10142071 | inframe deletion | TCT/- | delins |
|
0.700 | 1.000 | 4 | 2002 | 2016 | |||||||||
|
1.000 | 0.120 | 3 | 10142055 | stop gained | G/A;T | snv | 4.4E-06 |
|
0.810 | 1.000 | 4 | 1998 | 2017 | ||||||||
|
0.882 | 0.200 | 3 | 10142124 | missense variant | G/A;C;T | snv | 4.5E-06 |
|
0.800 | 1.000 | 4 | 1996 | 2017 | ||||||||
|
0.925 | 0.160 | 3 | 10149813 | stop gained | C/G;T | snv |
|
0.700 | 1.000 | 4 | 1996 | 2016 | |||||||||
|
0.925 | 0.160 | 3 | 10149856 | missense variant | T/A;C;G | snv |
|
0.800 | 1.000 | 4 | 2004 | 2017 | |||||||||
|
0.925 | 0.160 | 3 | 10149798 | frameshift variant | A/-;AA | delins |
|
0.700 | 1.000 | 4 | 1976 | 2004 | |||||||||
|
1.000 | 0.120 | 3 | 10146512 | splice acceptor variant | A/G | snv |
|
0.700 | 1.000 | 4 | 2010 | 2016 | |||||||||
|
0.925 | 0.160 | 3 | 10146637 | splice donor variant | G/A;C | snv |
|
0.700 | 1.000 | 4 | 1996 | 2011 | |||||||||
|
1.000 | 0.120 | 3 | 10146565 | missense variant | A/G | snv |
|
0.700 | 1.000 | 3 | 2000 | 2009 |