| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.320 | 11 | 71441307 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | X | 68210239 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.240 | 6 | 52083201 | missense variant | G/A | snv | 4.5E-04 | 4.7E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 4 | 15516757 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.120 | 1 | 26697152 | frameshift variant | -/GCCGCCTCCCTCCTCCAGCGCC | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 8 | 42437137 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 11 | 103120982 | stop gained | G/T | snv | 2.8E-05 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.360 | 4 | 15587929 | splice donor variant | G/- | delins | 1.9E-04 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 9 | 131506164 | inframe deletion | CTT/- | delins | 3.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.716 | 0.480 | 8 | 93786255 | missense variant | C/T | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 11 | 103287559 | synonymous variant | G/A | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 19 | 12896938 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 5 | 134874531 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 12 | 88129872 | frameshift variant | AA/- | delins |
|
0.700 | 0 |