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 | 0.200 | 11 | 108365410 | frameshift variant | G/- | del | 0.700 | 1.000 | 9 | 1996 | 2016 | |||||
|
1 | 1.000 | 0.200 | 11 | 108335056 | stop gained | A/T | snv | 0.700 | 1.000 | 4 | 1998 | 2015 | |||||
|
1 | 1.000 | 0.200 | 11 | 108327678 | frameshift variant | GT/- | delins | 0.700 | 1.000 | 4 | 1996 | 2014 | |||||
|
1 | 1.000 | 0.200 | 11 | 108317522 | splice donor variant | G/A | snv | 7.3E-06 | 0.700 | 1.000 | 3 | 1999 | 2014 | ||||
|
1 | 1.000 | 0.200 | 11 | 108282733 | frameshift variant | TT/-;T | delins | 0.700 | 1.000 | 3 | 1999 | 2000 | |||||
|
1 | 1.000 | 0.200 | 11 | 108256281 | stop gained | -/A | delins | 4.0E-06 | 0.700 | 1.000 | 3 | 2003 | 2019 | ||||
|
1 | 1.000 | 0.200 | 11 | 108245028 | splice donor variant | T/AA | delins | 0.700 | 1.000 | 3 | 2000 | 2014 | |||||
|
1 | 1.000 | 0.200 | 11 | 108365480 | frameshift variant | TT/-;T | delins | 0.700 | 1.000 | 3 | 2000 | 2009 | |||||
|
1 | 1.000 | 0.200 | 11 | 108247029 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 3 | 1995 | 2017 | |||
|
1 | 1.000 | 0.200 | 11 | 108316030 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2009 | 2012 | ||||
|
1 | 1.000 | 0.200 | 11 | 108250928 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 2006 | 2011 | ||||
|
1 | 1.000 | 0.200 | 11 | 108259076 | splice donor variant | G/A | snv | 0.700 | 1.000 | 3 | 1999 | 2014 | |||||
|
1 | 1.000 | 0.200 | 11 | 108319953 | splice acceptor variant | G/A | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.200 | 11 | 108252815 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.200 | 11 | 108295056 | stop gained | C/G;T | snv | 0.700 | 1.000 | 2 | 2000 | 2009 | |||||
|
1 | 1.000 | 0.200 | 11 | 108343274 | frameshift variant | TC/A | delins | 0.700 | 1.000 | 2 | 2000 | 2009 | |||||
|
1 | 1.000 | 0.200 | 11 | 108244119 | splice donor variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.200 | 11 | 108335098 | stop gained | C/A;G;T | snv | 0.700 | 1.000 | 2 | 1996 | 2004 | |||||
|
1 | 1.000 | 0.200 | 11 | 108343326 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 1998 | 2012 | ||||
|
1 | 1.000 | 0.200 | 11 | 108267170 | splice acceptor variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.200 | 11 | 108256214 | splice acceptor variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.200 | 11 | 108249103 | splice donor variant | G/A | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.200 | 11 | 108254040 | splice donor variant | G/T | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.200 | 11 | 108271199 | splice acceptor variant | GTGTTCTGTTAAGCTTATAAAGTTGAACTTTTTTTTTTTTTTTACCACAGCAATGTGTGTTCTTTGTAT/- | delins | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.200 | 11 | 108281067 | frameshift variant | -/GGTTTTATCCTGT | delins | 0.700 | 1.000 | 2 | 2013 | 2014 |