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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 14 | 95096172 | missense variant | A/C | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 1.000 | 0.040 | 14 | 95116680 | stop gained | G/A | snv | 0.700 | 1.000 | 4 | 2013 | 2016 | |||||
|
2 | 1.000 | 0.040 | 14 | 95096608 | frameshift variant | TCAG/- | delins | 0.700 | 1.000 | 4 | 2010 | 2015 | |||||
|
1 | 1.000 | 0.040 | 14 | 95116575 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 2009 | 2015 | |||||
|
2 | 1.000 | 0.040 | 14 | 95113166 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2009 | 2011 | ||||
|
1 | 1.000 | 0.040 | 14 | 95124195 | splice donor variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2009 | 2014 | |||||
|
1 | 1.000 | 0.040 | 14 | 95108095 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 2 | 2009 | 2011 | |||||
|
2 | 1.000 | 0.040 | 14 | 95105784 | splice acceptor variant | C/A | snv | 0.700 | 1.000 | 2 | 2009 | 2011 | |||||
|
1 | 1.000 | 0.040 | 14 | 95106040 | splice donor variant | C/T | snv | 0.700 | 1.000 | 2 | 2009 | 2011 | |||||
|
1 | 1.000 | 0.040 | 14 | 95116696 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 2 | 2009 | 2011 | |||||
|
1 | 1.000 | 0.040 | 14 | 95124669 | splice acceptor variant | C/G | snv | 0.700 | 1.000 | 2 | 2009 | 2011 | |||||
|
2 | 1.000 | 0.040 | 14 | 95115704 | stop gained | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
2 | 1.000 | 0.040 | 14 | 95099779 | splice donor variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2009 | 2011 | |||||
|
1 | 1.000 | 0.040 | 14 | 95116520 | frameshift variant | AT/- | del | 0.700 | 1.000 | 2 | 2009 | 2015 | |||||
|
3 | 0.925 | 0.080 | 14 | 95103856 | stop gained | G/T | snv | 0.700 | 1.000 | 2 | 2009 | 2015 | |||||
|
1 | 1.000 | 0.040 | 14 | 95103618 | frameshift variant | -/G | delins | 0.700 | 1.000 | 2 | 2011 | 2015 | |||||
|
1 | 1.000 | 0.040 | 14 | 95105764 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | 14 | 95091289 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 14 | 95094149 | stop gained | G/C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.040 | 14 | 95113106 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 14 | 95106159 | frameshift variant | GTG/TT | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 14 | 95091236 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 14 | 95111340 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 14 | 95107763 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 14 | 95104047 | stop gained | C/A | snv | 0.700 | 0 |