Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 1 | 100214929 | missense variant | A/C | snv | 1.1E-04 | 1.0E-04 |
|
0.800 | 1.000 | 7 | 1991 | 2014 | |||||||
|
0.925 | 0.120 | 1 | 100214855 | missense variant | G/A;C | snv | 5.1E-04; 8.0E-06 |
|
0.710 | 1.000 | 4 | 2010 | 2016 | ||||||||
|
0.925 | 0.120 | 1 | 100240860 | frameshift variant | AT/- | del | 6.8E-05 | 4.2E-05 |
|
0.700 | 1.000 | 5 | 1993 | 2017 | |||||||
|
0.925 | 0.160 | 1 | 100206504 | missense variant | T/A;C | snv | 0.92 |
|
0.700 | 1.000 | 3 | 1991 | 2014 | ||||||||
|
1.000 | 0.120 | 1 | 100230872 | missense variant | G/C | snv |
|
0.700 | 1.000 | 2 | 1991 | 1998 | |||||||||
|
1.000 | 0.120 | 1 | 100216121 | stop gained | G/A | snv |
|
0.700 | 1.000 | 2 | 2015 | 2016 | |||||||||
|
1.000 | 0.120 | 1 | 100214817 | missense variant | C/G | snv | 1.2E-05 |
|
0.700 | 1.000 | 2 | 2008 | 2015 | ||||||||
|
0.925 | 0.160 | 1 | 100206504 | missense variant | T/A;C | snv | 0.92 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.160 | 1 | 100206504 | missense variant | T/A;C | snv | 0.92 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 1 | 100196274 | missense variant | A/C | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.120 | 1 | 100216085 | stop gained | C/A | snv | 6.4E-05 | 2.2E-04 |
|
0.700 | 1.000 | 1 | 1993 | 1993 | |||||||
|
0.882 | 0.120 | 1 | 100214929 | missense variant | A/C | snv | 1.1E-04 | 1.0E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 1 | 100196349 | missense variant | T/C | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | 1 | 100216174 | stop gained | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 1 | 100196424 | splice acceptor variant | TAGA/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 1 | 100206488 | frameshift variant | TG/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 1 | 100218625 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 1 | 100230855 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 1 | 100230889 | frameshift variant | CTGTATCTCCTTCTTTTACA/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 1 | 100240794 | stop gained | TA/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 1 | 100206229 | splice donor variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 1 | 100216030 | stop gained | G/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 1 | 100196413 | stop gained | G/A | snv | 8.4E-06 | 1.9E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 1 | 100230806 | frameshift variant | T/-;TT | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 1 | 100216085 | frameshift variant | CAACTTTG/- | del | 4.0E-06 |
|
0.700 | 0 |