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 | 0.925 | 0.040 | 1 | 156136080 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 1 | 156136352 | frameshift variant | GCACGCAC/-;GCACGCACGCAC | delins | 0.700 | 0 | ||||||||||
|
1 | 1 | 156136070 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
|
1 | 1 | 156136074 | inframe deletion | ATGGAGATCCACGCC/- | delins | 0.700 | 0 | ||||||||||
|
1 | 1 | 156115072 | missense variant | C/G | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.080 | 1 | 156134890 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1 | 156134927 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
1 | 1 | 156135239 | missense variant | C/G | snv | 0.700 | 0 | ||||||||||
|
1 | 1 | 156134875 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
|
1 | 1 | 156137180 | missense variant | C/T | snv | 2.1E-05 | 3.5E-05 | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.040 | 1 | 156115168 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1 | 156130736 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||||
|
4 | 0.925 | 0.080 | 1 | 156137651 | splice region variant | C/G | snv | 0.700 | 1.000 | 4 | 1996 | 2017 | |||||
|
4 | 0.882 | 0.160 | 1 | 156134474 | missense variant | C/A;G | snv | 0.710 | 1.000 | 5 | 1999 | 2007 | |||||
|
2 | 1.000 | 0.040 | 1 | 156134497 | missense variant | A/G;T | snv | 0.700 | 1.000 | 4 | 1999 | 2008 | |||||
|
2 | 1.000 | 0.120 | 1 | 156114934 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 1999 | 2000 | |||||
|
3 | 0.925 | 0.120 | 1 | 156136093 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 14 | 2000 | 2014 | ||||
|
1 | 1 | 156134943 | inframe deletion | AAG/- | delins | 0.700 | 1.000 | 3 | 2000 | 2001 | |||||||
|
3 | 0.925 | 0.120 | 1 | 156130745 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2000 | 2008 | |||||
|
1 | 1 | 156135922 | frameshift variant | C/- | del | 0.700 | 1.000 | 2 | 2000 | 2012 | |||||||
|
2 | 1.000 | 0.120 | 1 | 156130708 | missense variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2000 | 2011 | |||||
|
1 | 1 | 156134949 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||||
|
11 | 0.790 | 0.200 | 1 | 156134838 | stop gained | C/T | snv | 7.0E-06 | 0.710 | 1.000 | 6 | 2001 | 2020 | ||||
|
6 | 0.827 | 0.160 | 1 | 156134496 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 2001 | 2013 | |||||
|
3 | 0.925 | 0.160 | 1 | 156115172 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2001 | 2001 |