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 | 0.280 | 16 | 2500424 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 16 | 2497067 | missense variant | A/C | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 16 | 2496494 | stop gained | A/T | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 16 | 2496494 | stop gained | A/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 16 | 2496377 | inframe deletion | ATCGTGGGCAAG/- | delins | 1.2E-04 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
16 | 2496622 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 11 | 2014 | 2017 | |||||||||||
|
0.925 | 0.040 | 16 | 2496319 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 16 | 2496319 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 16 | 2496319 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 16 | 2496616 | stop gained | C/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.040 | 16 | 2496317 | missense variant | C/A;T | snv | 4.0E-06; 1.9E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 16 | 2496993 | missense variant | C/G | snv | 1.8E-04 | 2.1E-05 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
0.925 | 0.040 | 16 | 2496993 | missense variant | C/G | snv | 1.8E-04 | 2.1E-05 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
0.925 | 0.040 | 16 | 2496993 | missense variant | C/G | snv | 1.8E-04 | 2.1E-05 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
0.925 | 0.040 | 16 | 2498385 | stop gained | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 16 | 2498385 | stop gained | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 16 | 2498385 | stop gained | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.280 | 16 | 2496206 | stop gained | C/G;T | snv | 6.0E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.882 | 0.280 | 16 | 2496206 | stop gained | C/G;T | snv | 6.0E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.882 | 0.280 | 16 | 2496206 | stop gained | C/G;T | snv | 6.0E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.882 | 0.280 | 16 | 2496206 | stop gained | C/G;T | snv | 6.0E-05 |
|
0.800 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.882 | 0.280 | 16 | 2496206 | stop gained | C/G;T | snv | 6.0E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.882 | 0.280 | 16 | 2496206 | stop gained | C/G;T | snv | 6.0E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.882 | 0.280 | 16 | 2496206 | stop gained | C/G;T | snv | 6.0E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.882 | 0.280 | 16 | 2496206 | stop gained | C/G;T | snv | 6.0E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2014 |