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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 12 | 753860 | missense variant | C/T | snv | 6.2E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 12 | 753860 | missense variant | C/T | snv | 6.2E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
12 | 753919 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
12 | 753986 | missense variant | G/A | snv | 0.12 | 9.8E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
12 | 754011 | missense variant | C/T | snv | 3.3E-03 | 1.0E-03 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
12 | 792399 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
12 | 792399 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
12 | 830314 | intron variant | G/T | snv | 0.19 |
|
0.700 | 1.000 | 4 | 2015 | 2019 | ||||||||||
|
12 | 834787 | intron variant | G/T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.080 | 12 | 859428 | frameshift variant | GA/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 861184 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
12 | 866110 | non coding transcript exon variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.120 | 12 | 867971 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 12 | 868046 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 12 | 868394 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 12 | 868422 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 12 | 868470 | frameshift variant | G/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 12 | 868697 | stop gained | C/T | snv | 1.6E-05 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.925 | 0.160 | 12 | 868697 | stop gained | C/T | snv | 1.6E-05 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.882 | 0.160 | 12 | 868745 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.882 | 0.160 | 12 | 868745 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.882 | 0.160 | 12 | 868745 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 12 | 868772 | stop gained | C/T | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 12 | 868772 | stop gained | C/T | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
12 | 871759 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |