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 | 1 | 241504215 | missense variant | A/C | snv | 0.800 | 1.000 | 1 | 1998 | 1998 | |||||
|
2 | 1.000 | 0.200 | 1 | 241508644 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 10 | 1990 | 2012 | ||||
|
4 | 0.882 | 0.360 | 1 | 241508643 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 8 | 2002 | 2012 | ||||
|
2 | 1.000 | 0.200 | 1 | 241497927 | inframe insertion | -/TTT | delins | 1.0E-03; 8.0E-06 | 1.0E-03 | 0.700 | 1.000 | 7 | 1997 | 2013 | |||
|
3 | 0.925 | 0.320 | 1 | 241508652 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 1998 | 2016 | ||||
|
2 | 1.000 | 0.200 | 1 | 241502552 | missense variant | T/G | snv | 6.4E-05 | 4.9E-05 | 0.700 | 1.000 | 6 | 2000 | 2017 | |||
|
3 | 0.925 | 0.320 | 1 | 241504123 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.200 | 1 | 241500575 | frameshift variant | -/T | delins | 0.700 | 1.000 | 5 | 1998 | 2011 | |||||
|
1 | 1.000 | 0.200 | 1 | 241500435 | splice donor variant | A/G | snv | 0.700 | 1.000 | 5 | 1998 | 2011 | |||||
|
3 | 0.925 | 0.320 | 1 | 241500534 | frameshift variant | T/- | del | 0.700 | 1.000 | 5 | 1998 | 2011 | |||||
|
1 | 1.000 | 0.200 | 1 | 241497923 | frameshift variant | -/CCATTTTT | delins | 0.700 | 1.000 | 5 | 1998 | 2011 | |||||
|
3 | 0.925 | 0.320 | 1 | 241513680 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.200 | 1 | 241500490 | frameshift variant | -/ATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTTTCTG | delins | 0.700 | 1.000 | 4 | 2003 | 2011 | |||||
|
3 | 0.925 | 0.240 | 1 | 241512001 | missense variant | G/C;T | snv | 2.0E-05 | 2.8E-05 | 0.700 | 1.000 | 4 | 2003 | 2012 | |||
|
3 | 0.925 | 0.320 | 1 | 241504130 | missense variant | A/T | snv | 1.2E-05 | 0.700 | 1.000 | 4 | 2003 | 2015 | ||||
|
2 | 0.925 | 0.320 | 1 | 241504198 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 2003 | 2011 | |||||
|
1 | 1.000 | 0.200 | 1 | 241504053 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 2003 | 2011 | |||||
|
1 | 1.000 | 0.200 | 1 | 241519682 | frameshift variant | -/G | delins | 2.7E-05; 1.4E-05 | 2.1E-05 | 0.700 | 1.000 | 3 | 2011 | 2016 | |||
|
1 | 1.000 | 0.200 | 1 | 241508601 | splice donor variant | A/G | snv | 0.700 | 1.000 | 3 | 2002 | 2017 | |||||
|
3 | 0.925 | 0.320 | 1 | 241504064 | frameshift variant | CATT/- | delins | 4.0E-06 | 0.700 | 1.000 | 3 | 2003 | 2015 | ||||
|
3 | 0.925 | 0.320 | 1 | 241504246 | splice acceptor variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2002 | 2011 | |||||
|
3 | 0.925 | 0.320 | 1 | 241504057 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 2003 | 2012 | |||||
|
4 | 0.882 | 0.320 | 1 | 241502490 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 2010 | 2011 | |||
|
2 | 0.925 | 0.320 | 1 | 241517181 | splice donor variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2002 | 2011 | |||||
|
1 | 1.000 | 0.200 | 1 | 241519658 | stop gained | A/C;T | snv | 0.700 | 1.000 | 2 | 2011 | 2016 |