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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.160 | 10 | 87965286 | splice acceptor variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.320 | 10 | 87957958 | stop gained | T/A;C;G | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
3 | 1.000 | 0.080 | 10 | 87933236 | missense variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||
|
1 | 1.000 | 0.080 | 10 | 87933012 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 10 | 87957893 | stop gained | T/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 87958019 | splice donor variant | G/- | delins | 0.700 | 1.000 | 4 | 1998 | 2011 | |||||
|
1 | 1.000 | 0.080 | 10 | 87925547 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 87952254 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 10 | 87957938 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 87925524 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 87933253 | splice donor variant | T/- | del | 0.700 | 0 | ||||||||
|
8 | 0.790 | 0.160 | 10 | 87933223 | missense variant | A/C;G | snv | 0.700 | 1.000 | 8 | 2000 | 2016 | |||||
|
1 | 1.000 | 0.080 | 10 | 87933104 | frameshift variant | -/GACAATCATGTTG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 87960890 | splice acceptor variant | TTAGGAC/A | delins | 0.700 | 1.000 | 2 | 1998 | 2011 | |||||
|
10 | 0.752 | 0.240 | 10 | 87961039 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||
|
6 | 0.925 | 0.080 | 10 | 87933075 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.200 | 10 | 87961096 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
12 | 0.763 | 0.160 | 10 | 87965285 | splice acceptor variant | A/C;G | snv | 0.700 | 1.000 | 6 | 2000 | 2017 | |||||
|
4 | 0.882 | 0.120 | 10 | 87894076 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
12 | 0.763 | 0.200 | 10 | 87925511 | splice acceptor variant | A/G;T | snv | 0.700 | 1.000 | 3 | 1998 | 2017 | |||||
|
5 | 0.882 | 0.120 | 10 | 87864504 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.160 | 10 | 87933128 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.790 | 0.240 | 10 | 87933160 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.160 | 10 | 87864509 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.320 | 10 | 87933175 | stop gained | T/G | snv | 0.700 | 0 |