| 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 | 0.200 | 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 | |||||||||
|
0.925 | 0.160 | 3 | 10146561 | missense variant | G/C;T | snv |
|
0.800 | 1.000 | 5 | 1993 | 2017 | |||||||||
|
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 | 10149856 | missense variant | T/A;C;G | snv |
|
0.800 | 1.000 | 4 | 2004 | 2017 | |||||||||
|
1.000 | 0.120 | 3 | 10146618 | missense variant | G/A;C;T | snv |
|
0.810 | 1.000 | 3 | 1993 | 2017 | |||||||||
|
1.000 | 0.120 | 3 | 10142160 | missense variant | A/C | snv |
|
0.800 | 1.000 | 2 | 1993 | 2017 | |||||||||
|
1.000 | 0.120 | 3 | 10146524 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 2 | 1995 | 2017 | ||||||||
|
0.925 | 0.160 | 3 | 10146526 | missense variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 1998 | 2017 | |||||||||
|
1.000 | 0.120 | 3 | 10149819 | missense variant | G/T | snv |
|
0.800 | 1.000 | 0 | 1993 | 2017 | |||||||||
|
0.882 | 0.240 | 3 | 10142088 | missense variant | C/T | snv | 2.0E-04 | 3.8E-04 |
|
0.810 | 1.000 | 0 | 1993 | 2017 | |||||||
|
0.925 | 0.160 | 3 | 10142110 | stop gained | G/A;C | snv |
|
0.810 | 0.875 | 0 | 2004 | 2017 | |||||||||
|
1.000 | 0.120 | 3 | 10149815 | missense variant | G/C;T | snv | 8.0E-06 |
|
0.800 | 1.000 | 0 | 1993 | 2017 | ||||||||
|
1.000 | 0.120 | 3 | 10142167 | missense variant | G/A;C | snv |
|
0.800 | 1.000 | 0 | 1993 | 2017 | |||||||||
|
0.790 | 0.280 | 3 | 10142086 | missense variant | G/A;T | snv |
|
0.810 | 0.875 | 0 | 2004 | 2017 | |||||||||
|
0.851 | 0.320 | 3 | 10142113 | missense variant | T/A;C | snv |
|
0.800 | 1.000 | 0 | 2004 | 2017 | |||||||||
|
1.000 | 0.120 | 3 | 10142180 | missense variant | C/G;T | snv | 4.5E-06 |
|
0.800 | 1.000 | 0 | 2004 | 2017 | ||||||||
|
1.000 | 0.120 | 3 | 10149793 | missense variant | C/T | snv |
|
0.800 | 1.000 | 0 | 1993 | 2017 | |||||||||
|
0.925 | 0.160 | 3 | 10142111 | missense variant | G/C;T | snv |
|
0.700 | 1.000 | 10 | 1995 | 2016 | |||||||||
|
0.925 | 0.160 | 3 | 10142071 | inframe deletion | TCT/- | delins |
|
0.700 | 1.000 | 4 | 2002 | 2016 | |||||||||
|
0.925 | 0.160 | 3 | 10149813 | stop gained | C/G;T | snv |
|
0.700 | 1.000 | 4 | 1996 | 2016 | |||||||||
|
1.000 | 0.120 | 3 | 10146512 | splice acceptor variant | A/G | snv |
|
0.700 | 1.000 | 4 | 2010 | 2016 | |||||||||
|
1.000 | 0.120 | 3 | 10146518 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 8 | 1995 | 2015 | |||||||||
|
0.882 | 0.280 | 3 | 10149804 | stop gained | C/G;T | snv |
|
0.800 | 1.000 | 18 | 1994 | 2014 |