| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.120 | 14 | 73186860 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 1996 | 1996 | |||||||||
|
0.827 | 0.160 | 14 | 73170963 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.120 | 14 | 73173574 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 14 | 73173585 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.080 | 14 | 73170974 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.790 | 0.120 | 14 | 73170998 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.851 | 0.080 | 14 | 73198072 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.925 | 0.080 | 14 | 73192828 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.807 | 0.120 | 14 | 73173667 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.120 | 14 | 73192793 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.790 | 0.080 | 14 | 73173642 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
1.000 | 0.080 | 14 | 73173656 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.827 | 0.080 | 14 | 73173643 | missense variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.882 | 0.080 | 14 | 73170984 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.807 | 0.160 | 14 | 73219161 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.851 | 0.160 | 14 | 73217210 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.742 | 0.120 | 14 | 73192792 | missense variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.080 | 14 | 73173685 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 14 | 73173651 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 14 | 73186881 | inframe insertion | -/TAT | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 14 | 73217173 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 14 | 73219182 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 14 | 73192760 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 14 | 73206385 | splice acceptor variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 14 | 73192699 | missense variant | A/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |