| 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 | 0.080 | 1 | 26438228 | missense variant | A/G | snv | 2.3E-04 | 1.5E-04 |
|
0.740 | 1.000 | 6 | 2011 | 2018 | |||||||
|
0.925 | 0.080 | 1 | 215674335 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
0.807 | 0.200 | 1 | 215728232 | stop gained | C/T | snv | 9.2E-05 | 1.2E-04 |
|
0.700 | 1.000 | 2 | 2004 | 2019 | |||||||
|
0.851 | 0.200 | 1 | 216325524 | frameshift variant | -/GCTG | delins | 4.0E-06; 5.6E-05 | 5.6E-05 |
|
0.700 | 1.000 | 2 | 2000 | 2019 | |||||||
|
0.882 | 0.200 | 1 | 215759735 | missense variant | C/A;T | snv | 4.0E-06; 5.6E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.827 | 0.080 | 1 | 94063250 | missense variant | A/G | snv | 1.5E-04 | 1.7E-04 |
|
0.700 | 1.000 | 2 | 1998 | 2019 | |||||||
|
0.882 | 0.200 | 1 | 215675337 | missense variant | G/A | snv | 3.2E-05 | 3.5E-05 |
|
0.700 | 1.000 | 2 | 2013 | 2019 | |||||||
|
0.790 | 0.200 | 1 | 216247118 | missense variant | C/A | snv | 9.7E-04 | 1.3E-03 |
|
0.750 | 1.000 | 2 | 2000 | 2019 | |||||||
|
0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 |
|
0.700 | 1.000 | 2 | 1998 | 2019 | |||||||
|
0.882 | 0.200 | 1 | 215799066 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.200 | 1 | 216321921 | missense variant | A/G | snv | 2.4E-05 | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 1 | 197421010 | stop gained | C/A;T | snv | 1.2E-05; 9.2E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 1 | 197427726 | stop gained | A/T | snv | 5.2E-05 | 1.3E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.200 | 1 | 215790168 | missense variant | C/T | snv | 3.5E-04 | 5.5E-04 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 1 | 94063315 | stop gained | G/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 1 | 215674564 | protein altering variant | AGAGTCCATGTTC/CAAG | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.080 | 1 | 94010821 | missense variant | C/T | snv | 1.6E-03 | 1.5E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.080 | 1 | 94011395 | intron variant | A/G | snv | 2.3E-04 | 3.0E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.200 | 1 | 215675336 | missense variant | C/T | snv | 5.9E-04 | 4.5E-04 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.851 | 0.080 | 1 | 94046943 | missense variant | T/C | snv | 1.4E-04 | 7.7E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.080 | 1 | 94029447 | frameshift variant | G/-;GG | delins | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.882 | 0.080 | 1 | 197427559 | missense variant | C/A;G;T | snv | 4.0E-06; 6.8E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.200 | 1 | 215786715 | missense variant | C/T | snv | 3.6E-05 | 7.7E-05 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.080 | 1 | 68446825 | stop gained | G/A;T | snv | 2.4E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.200 | 1 | 216365084 | missense variant | A/C;T | snv | 4.0E-06; 3.2E-05 |
|
0.700 | 1.000 | 1 | 2001 | 2001 |