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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.200 | 3 | 37012098 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 8 | 1996 | 2013 | ||||
|
3 | 1.000 | 0.160 | 3 | 37012102 | splice region variant | A/C;G;T | snv | 0.700 | 1.000 | 7 | 2003 | 2016 | |||||
|
5 | 0.925 | 0.160 | 3 | 37042267 | splice acceptor variant | G/A;T | snv | 0.700 | 1.000 | 7 | 2003 | 2014 | |||||
|
3 | 1.000 | 0.160 | 3 | 37050559 | frameshift variant | CACA/-;CA | delins | 0.700 | 1.000 | 7 | 1994 | 2006 | |||||
|
3 | 1.000 | 0.160 | 3 | 37050575 | frameshift variant | -/AACA | delins | 0.700 | 1.000 | 7 | 1996 | 2016 | |||||
|
4 | 0.925 | 0.160 | 3 | 37000991 | missense variant | A/G | snv | 8.0E-06 | 0.700 | 1.000 | 7 | 1999 | 2015 | ||||
|
3 | 0.925 | 0.160 | 3 | 37014493 | missense variant | T/C;G | snv | 3.6E-05 | 0.700 | 1.000 | 7 | 2002 | 2016 | ||||
|
1 | 3 | 37050540 | stop gained | -/TATAAAGCCTTGCGCTCACACATTCTGCCTC | delins | 0.700 | 1.000 | 6 | 1999 | 2014 | |||||||
|
2 | 1.000 | 0.160 | 3 | 37000954 | splice acceptor variant | G/A | snv | 0.700 | 1.000 | 6 | 2005 | 2016 | |||||
|
2 | 1.000 | 0.160 | 3 | 37014546 | splice donor variant | T/A;C | snv | 0.700 | 1.000 | 6 | 2003 | 2014 | |||||
|
3 | 1.000 | 0.160 | 3 | 37026008 | splice donor variant | G/A;C;T | snv | 0.700 | 1.000 | 6 | 1997 | 2007 | |||||
|
2 | 1.000 | 0.160 | 3 | 37040185 | splice acceptor variant | G/A;C;T | snv | 0.700 | 1.000 | 6 | 1996 | 2014 | |||||
|
4 | 0.925 | 0.160 | 3 | 37042332 | splice donor variant | G/A;C;T | snv | 0.700 | 1.000 | 6 | 2001 | 2014 | |||||
|
4 | 0.925 | 0.160 | 3 | 37050628 | missense variant | T/A;C | snv | 0.700 | 1.000 | 6 | 2003 | 2013 | |||||
|
2 | 1.000 | 0.160 | 3 | 37048562 | frameshift variant | C/- | delins | 0.700 | 1.000 | 6 | 1999 | 2010 | |||||
|
5 | 0.882 | 0.160 | 3 | 37008904 | missense variant | A/G | snv | 0.700 | 1.000 | 6 | 1999 | 2014 | |||||
|
6 | 0.851 | 0.240 | 3 | 37025979 | stop gained | A/T | snv | 0.700 | 1.000 | 6 | 1997 | 2009 | |||||
|
2 | 1.000 | 0.160 | 3 | 37050524 | stop gained | G/A | snv | 0.700 | 1.000 | 6 | 1999 | 2014 | |||||
|
3 | 1.000 | 0.080 | 3 | 37048984 | frameshift variant | -/TT | ins | 0.700 | 1.000 | 6 | 1999 | 2014 | |||||
|
2 | 1.000 | 0.160 | 3 | 37000953 | splice region variant | AGAA/- | delins | 0.700 | 1.000 | 5 | 2001 | 2016 | |||||
|
4 | 0.925 | 0.160 | 3 | 37012009 | splice acceptor variant | A/C;G | snv | 0.700 | 1.000 | 5 | 1995 | 2013 | |||||
|
3 | 1.000 | 0.160 | 3 | 37017504 | splice acceptor variant | A/G;T | snv | 0.700 | 1.000 | 5 | 2001 | 2014 | |||||
|
2 | 1.000 | 0.160 | 3 | 37047684 | splice donor variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 1999 | 2016 | ||||
|
6 | 0.851 | 0.240 | 3 | 37048515 | splice acceptor variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2004 | 2017 | ||||
|
2 | 1.000 | 0.160 | 3 | 37028902 | stop gained | C/T | snv | 0.700 | 1.000 | 5 | 1998 | 2014 |