| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 140753375 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
7 | 140753374 | missense variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
7 | 140753359 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
1.000 | 7 | 140800366 | missense variant | T/C | snv | 8.0E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 7 | 140800366 | missense variant | T/C | snv | 8.0E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
7 | 140781608 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
1.000 | 7 | 140801517 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 7 | 140781621 | missense variant | T/C | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.040 | 7 | 140753345 | missense variant | AG/GA | mnv |
|
0.710 | 1.000 | 13 | 2002 | 2018 | |||||||||
|
1.000 | 0.040 | 7 | 140753361 | missense variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2014 | 2015 | |||||||||
|
0.925 | 0.040 | 7 | 140753345 | missense variant | AG/GA | mnv |
|
0.020 | 1.000 | 2 | 2012 | 2018 | |||||||||
|
1.000 | 0.040 | 7 | 140781678 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-06 |
|
0.700 | 1.000 | 2 | 2007 | 2014 | ||||||||
|
1.000 | 0.040 | 7 | 140753351 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 7 | 140753332 | inframe deletion | TTT/- | del |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 7 | 140781678 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.040 | 7 | 140781678 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.040 | 7 | 140753321 | missense variant | CT/AA | mnv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 7 | 140753321 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 7 | 140778454 | intron variant | G/T | snv | 9.8E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.040 | 7 | 140753386 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.040 | 7 | 140753386 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.040 | 7 | 140753386 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 7 | 140781623 | missense variant | C/A | snv |
|
0.800 | 1.000 | 10 | 2006 | 2015 | |||||||||
|
1.000 | 0.080 | 7 | 140781620 | missense variant | A/C | snv |
|
0.800 | 1.000 | 10 | 2006 | 2015 | |||||||||
|
0.851 | 0.080 | 7 | 140781602 | missense variant | CC/AA;GA | mnv |
|
0.700 | 1.000 | 9 | 2002 | 2013 |