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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.200 | 17 | 43093098 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 10 | 2005 | 2015 | |||||
|
5 | 0.851 | 0.200 | 17 | 43091903 | frameshift variant | -/T | delins | 8.0E-06 | 0.700 | 1.000 | 10 | 2005 | 2015 | ||||
|
7 | 0.827 | 0.200 | 17 | 43124028 | frameshift variant | CT/-;CTCT | delins | 0.700 | 1.000 | 10 | 1995 | 2014 | |||||
|
11 | 0.807 | 0.200 | 17 | 43063903 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 2.0E-05 | 0.700 | 1.000 | 9 | 2003 | 2012 | ||||
|
4 | 0.882 | 0.200 | 17 | 43094706 | frameshift variant | -/GCTCCACATG | delins | 6.0E-05; 4.0E-06 | 0.700 | 1.000 | 9 | 1997 | 2011 | ||||
|
4 | 0.882 | 0.200 | 17 | 43106478 | stop lost | A/C;G | snv | 1.2E-05 | 0.700 | 1.000 | 9 | 1994 | 2013 | ||||
|
4 | 0.882 | 0.200 | 17 | 43049164 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 9 | 1998 | 2015 | ||||
|
3 | 0.925 | 0.200 | 17 | 43092849 | frameshift variant | CTTT/- | delins | 0.700 | 1.000 | 9 | 1996 | 2014 | |||||
|
3 | 0.925 | 0.200 | 17 | 43045711 | stop gained | -/T | delins | 7.0E-06 | 0.700 | 1.000 | 9 | 1994 | 2015 | ||||
|
4 | 0.925 | 0.200 | 17 | 43092197 | frameshift variant | GCTT/- | delins | 0.700 | 1.000 | 9 | 1996 | 2013 | |||||
|
4 | 0.882 | 0.200 | 17 | 43091496 | frameshift variant | T/- | delins | 4.2E-05 | 0.700 | 1.000 | 9 | 1996 | 2014 | ||||
|
4 | 0.925 | 0.200 | 17 | 43094732 | frameshift variant | AA/-;A;AAA | delins | 0.700 | 1.000 | 9 | 1995 | 2013 | |||||
|
3 | 0.925 | 0.200 | 17 | 43082403 | splice donor variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 2004 | 2019 | ||||
|
4 | 0.882 | 0.200 | 17 | 43104968 | intron variant | T/C | snv | 0.700 | 1.000 | 9 | 1998 | 2019 | |||||
|
5 | 0.851 | 0.200 | 17 | 43070932 | frameshift variant | TCTTCTGGGGTCAGGCCAG/- | del | 0.700 | 1.000 | 9 | 1997 | 2014 | |||||
|
16 | 0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 | 0.700 | 1.000 | 8 | 1998 | 2015 | ||||
|
8 | 0.851 | 0.200 | 17 | 43091924 | stop gained | G/A;C | snv | 1.2E-05 | 0.700 | 1.000 | 8 | 1997 | 2015 | ||||
|
5 | 0.851 | 0.200 | 17 | 43067608 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 1.000 | 8 | 2005 | 2019 | ||||
|
3 | 0.925 | 0.200 | 17 | 43071046 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 1.000 | 8 | 2003 | 2014 | ||||
|
3 | 0.925 | 0.200 | 17 | 43106528 | missense variant | C/A;T | snv | 0.700 | 1.000 | 8 | 2001 | 2019 | |||||
|
4 | 0.882 | 0.200 | 17 | 43093857 | frameshift variant | TT/-;T;TTT | delins | 0.700 | 1.000 | 8 | 1997 | 2018 | |||||
|
5 | 0.882 | 0.200 | 17 | 43092302 | frameshift variant | CT/- | delins | 4.0E-06 | 0.700 | 1.000 | 8 | 1998 | 2012 | ||||
|
3 | 0.925 | 0.200 | 17 | 43099773 | splice donor variant | A/T | snv | 0.700 | 1.000 | 8 | 1997 | 2015 | |||||
|
4 | 0.882 | 0.200 | 17 | 43104967 | intron variant | A/C | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 8 | 1994 | 2013 | |||
|
3 | 0.925 | 0.200 | 17 | 43057051 | splice donor variant | C/A;G;T | snv | 0.700 | 1.000 | 8 | 2001 | 2014 |