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 | 0.120 | 7 | 150947453 | stop gained | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 150951698 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 150950200 | frameshift variant | -/TC | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 150948978 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 150950983 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 150958306 | frameshift variant | TGCCA/G | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 150948456 | frameshift variant | -/CCTGC | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 150947632 | frameshift variant | TTCTC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 7 | 150951711 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 7 | 150951711 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 7 | 150951649 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 150947477 | stop gained | C/G;T | snv | 5.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 7 | 150947729 | missense variant | G/A;T | snv | 6.0E-05; 6.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 7 | 150974720 | missense variant | G/A;C;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 7 | 150950216 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 150947005 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 150947381 | frameshift variant | -/GC | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 150947383 | frameshift variant | -/ACCCG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 150947389 | stop gained | -/GGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCAC | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 150947426 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 150948478 | frameshift variant | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 7 | 150948855 | splice donor variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | 7 | 150950163 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 150950249 | inframe deletion | ATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 150950347 | frameshift variant | -/A | delins |
|
0.700 | 0 |