Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 3 | 122257347 | missense variant | C/T | snv | 0.710 | 1.000 | 1 | 1996 | 1996 | |||||
|
10 | 0.790 | 0.200 | 3 | 122261589 | missense variant | G/A;C | snv | 0.700 | 1.000 | 13 | 1993 | 2015 | |||||
|
2 | 0.925 | 0.120 | 3 | 122254353 | missense variant | CG/TT | mnv | 0.700 | 1.000 | 9 | 1995 | 2014 | |||||
|
3 | 0.882 | 0.160 | 3 | 122254353 | missense variant | C/T | snv | 0.700 | 1.000 | 9 | 1995 | 2014 | |||||
|
5 | 0.827 | 0.160 | 3 | 122261715 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 8 | 1992 | 2016 | ||||
|
3 | 0.882 | 0.160 | 3 | 122261924 | missense variant | G/A | snv | 0.700 | 1.000 | 7 | 1993 | 2016 | |||||
|
3 | 0.882 | 0.160 | 3 | 122284337 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 6 | 1993 | 2011 | ||||
|
5 | 0.827 | 0.280 | 3 | 122283992 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 6 | 1995 | 2012 | |||
|
4 | 0.851 | 0.200 | 3 | 122261693 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 4 | 1991 | 2007 | ||||
|
2 | 0.925 | 0.120 | 3 | 122261549 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2009 | 2016 | ||||
|
2 | 0.925 | 0.160 | 3 | 122261714 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 3 | 2011 | 2016 | ||||
|
2 | 0.925 | 0.120 | 3 | 122284436 | missense variant | A/C | snv | 0.700 | 1.000 | 3 | 2000 | 2014 | |||||
|
2 | 0.925 | 0.120 | 3 | 122257308 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 1992 | 1995 | |||||
|
2 | 0.925 | 0.160 | 3 | 122254262 | stop gained | C/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2011 | ||||
|
3 | 0.882 | 0.160 | 3 | 122284611 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.120 | 3 | 122284197 | frameshift variant | -/G | delins | 0.700 | 1.000 | 1 | 1997 | 1997 | |||||
|
2 | 0.925 | 0.120 | 3 | 122257288 | inframe deletion | AGAGCACATTCCCTC/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.120 | 3 | 122282134 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 3 | 122257241 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 3 | 122284371 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 3 | 122257249 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 3 | 122257277 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 3 | 122261606 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 3 | 122283789 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 3 | 122284272 | missense variant | T/G | snv | 0.700 | 0 |