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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.240 | 2 | 100006808 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 7 | 100113899 | missense variant | A/G;T | snv | 3.2E-05 |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.240 | X | 100407507 | frameshift variant | G/-;GG | delins |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.160 | 7 | 100646637 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 7 | 100647014 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 4 | 101032350 | frameshift variant | TC/- | delins |
|
0.700 | 0 | |||||||||||||
|
0.882 | 0.160 | 12 | 101757459 | coding sequence variant | -/ATTTTAGAACAGTGCTTAATAGACAAAATATTGTAGAATTATAAAAAAGCCAGACCTTTGTGATTACTCTTATACTAAACAAAGGGAGTATGCGTGTACTACTTACCTATATTTGTTTTTGTCCTTATATGCTTTGTGGATTTTGTCAGTTACTGGTTTACAGTTTGTTACTAGACTTTTAGTGACCGGTGGCTATGAGAAAATATAA | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 12 | 101757657 | splice acceptor variant | GC/AT | mnv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 3 | 101757754 | missense variant | A/G | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.080 | 14 | 101986027 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.240 | 14 | 102002950 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 14 | 102010824 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.040 | 14 | 102012450 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 6 | 104796666 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.080 | 7 | 105101476 | frameshift variant | AAAGA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.080 | 4 | 106194717 | splice donor variant | C/A;T | snv | 4.3E-06; 8.7E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 7 | 107675051 | missense variant | T/C | snv | 2.7E-04 | 3.4E-04 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.240 | 7 | 107689054 | missense variant | T/A;C | snv | 4.0E-06; 8.6E-04 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 4 | 107945426 | missense variant | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 1 | 109258951 | missense variant | C/G;T | snv | 7.3E-05 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 1 | 109628692 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 19 | 11021755 | missense variant | G/A | snv |
|
0.700 | 0 |