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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.160 | 2 | 47803501 | frameshift variant | C/-;CC;CCC | delins | 0.700 | 1.000 | 19 | 1997 | 2015 | |||||
|
4 | 0.925 | 0.160 | 2 | 47806588 | stop gained | -/TCAAAAGGGACATAGAAAA | delins | 7.0E-06 | 0.700 | 1.000 | 13 | 2005 | 2016 | ||||
|
4 | 0.925 | 0.160 | 2 | 47806641 | stop gained | C/A;T | snv | 4.1E-06; 4.1E-06 | 0.700 | 1.000 | 10 | 2005 | 2016 | ||||
|
4 | 0.925 | 0.160 | 2 | 47800040 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 9 | 2008 | 2017 | ||||
|
6 | 0.851 | 0.160 | 2 | 47803473 | missense variant | C/G;T | snv | 4.0E-06; 9.5E-05 | 0.700 | 1.000 | 9 | 2004 | 2017 | ||||
|
4 | 0.925 | 0.160 | 2 | 47806490 | frameshift variant | GGAGACT/- | del | 0.700 | 1.000 | 9 | 2005 | 2014 | |||||
|
4 | 0.925 | 0.160 | 2 | 47806606 | frameshift variant | CAAG/- | delins | 0.700 | 1.000 | 8 | 2003 | 2016 | |||||
|
5 | 0.882 | 0.160 | 2 | 47795903 | stop gained | C/G | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 8 | 1999 | 2014 | |||
|
3 | 1.000 | 0.160 | 2 | 47806279 | inframe deletion | CGT/- | delins | 0.700 | 1.000 | 8 | 2007 | 2016 | |||||
|
3 | 1.000 | 0.160 | 2 | 47806582 | frameshift variant | -/GTTA | delins | 4.0E-06 | 0.700 | 1.000 | 8 | 1998 | 2017 | ||||
|
4 | 0.925 | 0.160 | 2 | 47806630 | frameshift variant | -/GTCA | delins | 0.700 | 1.000 | 7 | 2003 | 2015 | |||||
|
4 | 0.925 | 0.160 | 2 | 47804984 | frameshift variant | -/A;AA | delins | 0.700 | 1.000 | 7 | 1999 | 2014 | |||||
|
6 | 0.851 | 0.200 | 2 | 47800130 | frameshift variant | TCAG/- | delins | 7.0E-06 | 0.700 | 1.000 | 6 | 1999 | 2013 | ||||
|
3 | 1.000 | 0.160 | 2 | 47806586 | frameshift variant | -/TTCA | delins | 7.0E-06 | 0.700 | 1.000 | 6 | 2005 | 2013 | ||||
|
2 | 2 | 47806628 | frameshift variant | -/A | delins | 0.700 | 1.000 | 6 | 2003 | 2015 | |||||||
|
1 | 2 | 47806526 | frameshift variant | TGTCCTAAAAGCT/- | delins | 0.700 | 1.000 | 5 | 2005 | 2013 | |||||||
|
1 | 2 | 47806576 | frameshift variant | -/GAGA | ins | 0.700 | 1.000 | 5 | 2005 | 2013 | |||||||
|
2 | 1.000 | 0.160 | 2 | 47806462 | frameshift variant | -/GAAAATGAATGTGA | delins | 0.700 | 1.000 | 5 | 2005 | 2013 | |||||
|
1 | 2 | 47806602 | frameshift variant | AAGCAAGAGAATTTGAGAA/- | delins | 0.700 | 1.000 | 5 | 2003 | 2011 | |||||||
|
4 | 0.925 | 0.160 | 2 | 47804908 | splice acceptor variant | A/G;T | snv | 0.700 | 1.000 | 5 | 1999 | 2015 | |||||
|
2 | 2 | 47806281 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2007 | 2014 | ||||||
|
3 | 1.000 | 0.160 | 2 | 47806604 | frameshift variant | A/-;AA;AAA | delins | 0.700 | 1.000 | 5 | 2003 | 2014 | |||||
|
7 | 0.827 | 0.240 | 2 | 47803449 | stop gained | C/A;G;T | snv | 0.700 | 1.000 | 5 | 2002 | 2014 | |||||
|
4 | 0.925 | 0.160 | 2 | 47799427 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2004 | 2012 | ||||
|
4 | 0.925 | 0.160 | 2 | 47798633 | frameshift variant | -/T | delins | 1.4E-05 | 0.700 | 1.000 | 5 | 1991 | 2010 |