| 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 | 0.040 | 22 | 31838822 | protein altering variant | -/AGA | ins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.040 | 22 | 31870703 | frameshift variant | A/- | del |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 9 | 128632218 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 18 | 47156119 | splice region variant | A/G | snv | 4.1E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 16 | 9849778 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 1 | 43439950 | missense variant | A/T | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 16 | 9938419 | missense variant | A/T | snv | 4.4E-05 | 4.2E-05 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 16 | 9840657 | inframe deletion | AAG/- | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 17 | 63714053 | missense variant | C/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
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 | ||||||||
|
1.000 | 0.040 | 7 | 147120974 | splice region variant | C/A;T | snv | 8.0E-06; 2.7E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 16 | 9937958 | splice donor variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.827 | 0.080 | 8 | 67483807 | stop gained | C/A;T | snv | 4.0E-06; 2.0E-03 | 2.5E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 9 | 128607988 | missense variant | C/G | snv | 5.7E-04 | 5.4E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 8 | 18084767 | missense variant | C/G | snv | 1.3E-03 | 1.5E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 1 | 43403254 | missense variant | C/G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 3 | 64147176 | missense variant | C/G | snv | 4.7E-04 | 6.3E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 16 | 9938274 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 16 | 9798433 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 7 | 103483741 | missense variant | C/T | snv | 8.5E-04 | 2.9E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.040 | 2 | 166045080 | missense variant | C/T | snv | 1.7E-03 | 1.5E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 8 | 132174283 | missense variant | C/T | snv | 1.9E-05 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 8 | 132129618 | missense variant | C/T | snv | 3.7E-04 | 3.1E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 1 | 43443774 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 15 | 93014832 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |