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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
37 | 0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 30 | 1990 | 2017 | |||||
|
5 | 0.851 | 0.200 | 17 | 43045761 | missense variant | A/C;G | snv | 0.700 | 1.000 | 24 | 1996 | 2017 | |||||
|
10 | 0.807 | 0.240 | 3 | 37048955 | missense variant | G/A;C | snv | 0.700 | 1.000 | 23 | 1996 | 2017 | |||||
|
10 | 0.776 | 0.280 | 17 | 43093570 | frameshift variant | TTTT/-;TT;TTT;TTTTT | delins | 7.0E-06 | 0.700 | 1.000 | 23 | 1995 | 2017 | ||||
|
7 | 0.827 | 0.200 | 17 | 43124028 | frameshift variant | CT/-;CTCT | delins | 0.700 | 1.000 | 23 | 1995 | 2017 | |||||
|
10 | 0.763 | 0.320 | 13 | 32363369 | missense variant | G/A;C | snv | 7.0E-06 | 0.700 | 1.000 | 22 | 2001 | 2018 | ||||
|
23 | 0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 21 | 1998 | 2017 | |||||
|
5 | 0.882 | 0.200 | 2 | 47429830 | stop gained | C/T | snv | 0.700 | 1.000 | 21 | 2001 | 2016 | |||||
|
3 | 0.925 | 0.200 | 17 | 43093975 | frameshift variant | T/- | delins | 0.700 | 1.000 | 21 | 1996 | 2016 | |||||
|
6 | 0.827 | 0.280 | 13 | 32333284 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 21 | 1996 | 2017 | |||||
|
3 | 0.925 | 0.080 | 17 | 17216395 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 20 | 2002 | 2019 | |||||
|
2 | 1.000 | 0.120 | 3 | 10142103 | missense variant | C/G;T | snv | 0.700 | 1.000 | 19 | 1994 | 2016 | |||||
|
6 | 0.827 | 0.200 | 17 | 43115729 | missense variant | C/A;T | snv | 0.700 | 1.000 | 19 | 2001 | 2017 | |||||
|
4 | 0.882 | 0.200 | 13 | 32339700 | frameshift variant | AAA/-;A;AA;AAAA;AAAAA | delins | 2.8E-05 | 0.700 | 1.000 | 19 | 1997 | 2016 | ||||
|
4 | 0.925 | 0.160 | 2 | 47475130 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 18 | 1993 | 2017 | |||||
|
2 | 1.000 | 0.120 | 17 | 7675994 | splice region variant | C/A;G;T | snv | 0.700 | 1.000 | 18 | 1989 | 2015 | |||||
|
5 | 0.851 | 0.200 | 13 | 32362521 | splice acceptor variant | A/G;T | snv | 0.700 | 1.000 | 17 | 1999 | 2016 | |||||
|
4 | 0.925 | 0.160 | 3 | 37012009 | splice acceptor variant | A/C;G | snv | 0.700 | 1.000 | 16 | 1995 | 2016 | |||||
|
5 | 0.882 | 0.160 | 2 | 47803501 | frameshift variant | C/-;CC;CCC | delins | 0.700 | 1.000 | 16 | 1997 | 2017 | |||||
|
6 | 0.851 | 0.240 | 2 | 47429812 | stop gained | C/T | snv | 0.700 | 1.000 | 16 | 1995 | 2015 | |||||
|
3 | 0.925 | 0.200 | 17 | 43067618 | inframe deletion | ACA/- | delins | 0.700 | 1.000 | 16 | 1996 | 2016 | |||||
|
5 | 0.851 | 0.200 | 13 | 32379800 | missense variant | G/A | snv | 0.700 | 1.000 | 16 | 2006 | 2018 | |||||
|
3 | 0.925 | 0.200 | 13 | 32338982 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 16 | 1999 | 2016 | |||||
|
11 | 0.790 | 0.280 | 8 | 89971214 | frameshift variant | GTTTT/- | delins | 2.0E-04 | 0.700 | 1.000 | 15 | 2000 | 2017 | ||||
|
4 | 0.882 | 0.160 | 3 | 37014485 | missense variant | G/A;T | snv | 0.700 | 1.000 | 15 | 1997 | 2014 |