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 | 16 | 3757894 | missense variant | T/C | snv |
|
0.800 | 1.000 | 0 | 2001 | 2015 | |||||||||
|
1.000 | 0.120 | 16 | 3850689 | stop gained | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 16 | 3793533 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3740399 | missense variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 16 | 3792074 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3727471 | stop lost | AAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGA/G | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3728772 | stop gained | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 16 | 3736119 | frameshift variant | CA/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3736772 | inframe deletion | CCT/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3778093 | frameshift variant | G/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 16 | 3778699 | splice donor variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 22 | 41157167 | splice acceptor variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3729142 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 16 | 3729405 | frameshift variant | CT/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3736104 | stop gained | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3745356 | splice acceptor variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3757906 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3782694 | frameshift variant | AG/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3792030 | frameshift variant | CA/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3793539 | frameshift variant | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 16 | 3728723 | stop gained | G/A;T | snv | 5.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 16 | 3749626 | splice donor variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 16 | 3749631 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 22 | 41158483 | stop gained | T/A;C | snv | 3.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 16 | 3793446 | stop gained | G/A | snv |
|
0.700 | 0 |