| 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 | 3 | 36993599 | missense variant | C/G;T | snv | 4.0E-06; 3.2E-05 |
|
0.700 | 1.000 | 20 | 1996 | 2012 | ||||||||
|
0.882 | 0.160 | 3 | 36993602 | missense variant | A/T | snv |
|
0.700 | 1.000 | 20 | 1996 | 2012 | |||||||||
|
0.882 | 0.160 | 3 | 36993609 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 20 | 1996 | 2012 | |||||||||
|
0.925 | 0.160 | 3 | 36993620 | missense variant | A/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 3 | 36993630 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 3 | 36993632 | missense variant | G/T | snv |
|
0.700 | 1.000 | 35 | 1996 | 2017 | |||||||||
|
1.000 | 0.080 | 3 | 36993638 | missense variant | GC/TG | mnv |
|
0.700 | 1.000 | 20 | 1996 | 2012 | |||||||||
|
0.925 | 0.160 | 3 | 36993651 | missense variant | T/G | snv |
|
0.700 | 1.000 | 20 | 1996 | 2012 | |||||||||
|
0.851 | 0.200 | 3 | 36993656 | stop gained | G/A;C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 3 | 36993659 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 20 | 1996 | 2012 | |||||||||
|
0.882 | 0.160 | 3 | 36993661 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 20 | 1996 | 2012 | ||||||||
|
0.925 | 0.160 | 3 | 36996624 | stop lost | A/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 3 | 36996633 | missense variant | C/A;T | snv |
|
0.800 | 1.000 | 15 | 2001 | 2017 | |||||||||
|
0.882 | 0.160 | 3 | 36996686 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 3 | 36996691 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 20 | 1996 | 2012 | ||||||||
|
1.000 | 0.080 | 3 | 36996693 | missense variant | A/G | snv | 3.6E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.200 | 3 | 36996701 | missense variant | G/A;C;T | snv |
|
0.800 | 1.000 | 35 | 1996 | 2017 | |||||||||
|
0.925 | 0.160 | 3 | 36996705 | missense variant | T/A | snv |
|
0.700 | 1.000 | 20 | 1996 | 2012 | |||||||||
|
1.000 | 0.080 | 3 | 36996708 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 20 | 1996 | 2012 | |||||||||
|
0.925 | 0.160 | 3 | 37000976 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 3 | 37000985 | missense variant | T/G | snv |
|
0.700 | 1.000 | 20 | 1996 | 2012 | |||||||||
|
0.925 | 0.160 | 3 | 37000997 | missense variant | A/G | snv |
|
0.700 | 1.000 | 20 | 1996 | 2012 | |||||||||
|
0.925 | 0.160 | 3 | 37001049 | splice donor variant | G/A;T | snv |
|
0.700 | 1.000 | 20 | 1996 | 2012 | |||||||||
|
0.882 | 0.160 | 3 | 37001051 | missense variant | G/A | snv |
|
0.700 | 1.000 | 20 | 1996 | 2012 | |||||||||
|
0.925 | 0.160 | 3 | 37004414 | missense variant | T/G | snv | 4.0E-06 |
|
0.700 | 1.000 | 20 | 1996 | 2012 |