| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2014 | 2017 | ||||||||
|
0.732 | 0.280 | 9 | 22083405 | intron variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
1.000 | 0.040 | 12 | 51807223 | missense variant | C/T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2019 | 2020 | ||||||||
|
0.882 | 0.040 | 20 | 49374931 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2017 | 2017 | |||||||||
|
0.882 | 0.280 | 16 | 2496206 | stop gained | C/G;T | snv | 6.0E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.925 | 0.160 | 12 | 51806788 | missense variant | A/G | snv |
|
0.020 | 1.000 | 2 | 2015 | 2017 | |||||||||
|
0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2018 | 2020 | |||||||||
|
0.807 | 0.080 | 21 | 32695106 | missense variant | C/T | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.882 | 0.280 | 16 | 2496266 | missense variant | C/T | snv | 8.0E-06 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.882 | 0.280 | 16 | 2499425 | splice region variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
0.925 | 20 | 63442428 | missense variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2012 | 2015 | ||||||||||
|
0.925 | 0.040 | 9 | 128632261 | inframe deletion | ACCAGCTGG/-;ACCAGCTGGACCAGCTGG | delins |
|
0.700 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
0.882 | 0.280 | 16 | 2496476 | missense variant | G/A | snv | 4.1E-06 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.882 | 0.280 | 16 | 2496267 | missense variant | G/A;C;T | snv | 4.0E-06; 2.0E-05; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 15 | 89319225 | splice region variant | T/A;C | snv | 4.0E-05 |
|
0.700 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.882 | 0.160 | 12 | 51807100 | missense variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2019 | 2020 | |||||||||
|
0.882 | 0.280 | 16 | 2498253 | missense variant | G/T | snv |
|
0.700 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
0.925 | 0.120 | 15 | 68214373 | stop gained | C/A;G;T | snv | 6.8E-05; 2.6E-03; 2.0E-05; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 19 | 41970211 | protein altering variant | AGTCT/GA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | X | 120557964 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.240 | 15 | 72349160 | frameshift variant | GAACTCAT/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.160 | 15 | 72345540 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.160 | 15 | 72345518 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.200 | 11 | 687941 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 |