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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.120 | 17 | 31259038 | stop gained | C/A;T | snv | 0.700 | 1.000 | 8 | 1997 | 2016 | |||||
|
2 | 1.000 | 0.120 | 17 | 31225134 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 8 | 2003 | 2014 | ||||
|
6 | 0.882 | 0.200 | 17 | 31226474 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 8 | 2003 | 2016 | |||
|
5 | 0.882 | 0.240 | 17 | 31221932 | missense variant | A/G | snv | 0.700 | 1.000 | 7 | 1994 | 2013 | |||||
|
1 | 17 | 31259069 | missense variant | A/G | snv | 0.700 | 1.000 | 7 | 1996 | 2013 | |||||||
|
2 | 1.000 | 0.120 | 17 | 31233092 | missense variant | T/G | snv | 0.700 | 1.000 | 7 | 2004 | 2017 | |||||
|
2 | 1.000 | 0.120 | 17 | 31260403 | missense variant | A/G | snv | 0.700 | 1.000 | 7 | 1997 | 2015 | |||||
|
2 | 1.000 | 0.120 | 17 | 31343098 | inframe deletion | AACTTT/- | delins | 7.0E-06 | 0.700 | 1.000 | 7 | 1994 | 2015 | ||||
|
4 | 0.882 | 0.200 | 17 | 31327535 | stop gained | C/T | snv | 0.700 | 1.000 | 7 | 1994 | 2017 | |||||
|
2 | 1.000 | 0.120 | 17 | 31233030 | frameshift variant | AA/- | del | 0.700 | 1.000 | 6 | 2000 | 2011 | |||||
|
4 | 0.882 | 0.240 | 17 | 31229954 | inframe deletion | AAT/- | del | 4.0E-06 | 0.700 | 1.000 | 6 | 1993 | 2014 | ||||
|
6 | 0.827 | 0.280 | 17 | 31327719 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 6 | 2003 | 2015 | |||||
|
7 | 0.807 | 0.280 | 17 | 31338739 | stop gained | C/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 1995 | 2013 | ||||
|
2 | 1.000 | 0.120 | 17 | 31248982 | splice acceptor variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 1997 | 2015 | ||||
|
2 | 1.000 | 0.120 | 17 | 31206360 | stop gained | C/T | snv | 0.700 | 1.000 | 6 | 2000 | 2013 | |||||
|
3 | 0.925 | 0.120 | 17 | 31229155 | missense variant | T/C;G | snv | 0.700 | 1.000 | 5 | 2000 | 2014 | |||||
|
2 | 1.000 | 0.120 | 17 | 31163376 | missense variant | G/A;C | snv | 0.700 | 1.000 | 5 | 2002 | 2015 | |||||
|
11 | 0.827 | 0.320 | 17 | 31169985 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 5 | 2000 | 2015 | |||
|
3 | 0.925 | 0.120 | 17 | 31223476 | frameshift variant | ACTA/- | delins | 0.700 | 1.000 | 5 | 1998 | 2016 | |||||
|
2 | 1.000 | 0.120 | 17 | 31200443 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 1998 | 2013 | ||||
|
2 | 1.000 | 0.120 | 17 | 31227526 | missense variant | T/A | snv | 0.700 | 1.000 | 5 | 2000 | 2014 | |||||
|
2 | 1.000 | 0.120 | 17 | 31200420 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 5 | 1999 | 2015 | |||||
|
13 | 0.790 | 0.320 | 17 | 31229061 | stop gained | C/T | snv | 0.700 | 1.000 | 5 | 2004 | 2016 | |||||
|
1 | 17 | 31200595 | missense variant | G/A;C | snv | 0.700 | 1.000 | 4 | 2000 | 2008 | |||||||
|
7 | 0.807 | 0.280 | 17 | 31334927 | stop gained | C/T | snv | 0.700 | 1.000 | 4 | 1990 | 2003 |