| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1553403585 | 2 | 73449482 | frameshift variant | -/CTATTCTGGACTG | ins | 1 | |||||
| rs1553512879 | 2 | 181544799 | splice region variant | G/C | snv | 1 | |||||
| rs1553711564 | 3 | 121788283 | splice donor variant | C/T | snv | 1 | |||||
| rs1554186385 | 6 | 42178410 | missense variant | A/C | snv | 1 | |||||
| rs1554214453 | 6 | 64886713 | stop gained | A/T | snv | 1 | |||||
| rs1554270834 | 6 | 42722069 | frameshift variant | GCTGGGTC/- | del | 1 | |||||
| rs1554628460 | 9 | 2717843 | frameshift variant | -/GTTCCGGCTCCCAGGCCAGCATCCACGGCTGGACAGAGGGCAACTATAACTACTACATCGAGGAAGACGAAGACGGCGAGGAGGAGGACCAGTGGAAGGACGACCTGGCAGAAGAGGACCAGCAGGCAGGGGAGGTCACCACCGCCAAGCCCGAGGGCCCCAGCGACCCTCCGGCCCTGCTGTCC | delins | 1 | |||||
| rs1554824273 | 10 | 84258712 | 3 prime UTR variant | -/G | delins | 1 | |||||
| rs1554857529 | 10 | 84211128 | missense variant | A/G | snv | 1 | |||||
| rs1554998040 | 11 | 67458613 | splice acceptor variant | TGCCCTTCTCTCCCGCAGAGTTTGTGATGATGCTCTCCCGCCACTGAGGCTCCAGGAGGGAATATCTGTTGCCCCTGCGGCCCCAGACACCAGCCAGACCCAGGCTGCAGGCCTCCCCCAGGAGCCTCCAGGATGGAGATGGAGACCCAGCAGCCCCCAGACTACTTCTATCCCTGAAAACACCTGGCCTCAATGTTGGCTTGTTATGTTACCTGCCCACCCTCATCCTTACCTCCTCCTACTCAAGCTGCCTGGAGAAGACCTGCTCTCAGCTGCCCACCGTTCCTCAGTGTGAGCAAGATTTGGGTCTCTCCAGACCTCTGGGAGGTAGGGAGTTCCCTGGCACTGGCAGCATTCAGTGGGGACCCCCCAGTGGCATGATGAATGGAGAGGATGGCTGGACCCCTTCCACTACTTATGTTTATAATTTTTTTTTTTTTTAATGAACTTGAGCCGGGTGCAGTGGCTCACACCTGTAAGCCCAGCTGTCAGGGGGCAGAAGCGGGAGGATAGCTTGAGCCCAGGAGTGCAAGACCTGCCTGGGCAATATACTGAGACCCCATTCTCCACAAAAAGGAAAAATAAAAGACAAAAAAACAAACAAAAAACCAAAAAACCCAAGTGTAAAAAAAGTGAGCTTGAAAGAAAGAAAGGGATGGCTCCATGTATCAAAGACAAAGAAATCAAAGCTGGGGTTGTAAGAGGGAGCTGACGCTGTGGGGGTTTCAGATCTGGATGGAGGCTTGGCCGCCTGGACTCCTACAACCATGAGTGACAGAAGAACCATATGAGTCTGGGGAGCAAGAAACAAACCCCCCGGATATATTCCAGGGTCTCCAAAG/- | del | 1 | |||||
| rs1555036138 | 11 | 119339507 | missense variant | G/A | snv | 1 | |||||
| rs1555037395 | 11 | 119344335 | stop gained | G/A | snv | 1 | |||||
| rs1555096248 | 11 | 61950428 | splice donor variant | G/T | snv | 1 | |||||
| rs1555792415 | 19 | 54122531 | frameshift variant | A/- | delins | 1 | |||||
| rs1555811525 | 20 | 25309577 | splice acceptor variant | T/C | snv | 1 | |||||
| rs1555870809 | 21 | 45494560 | stop gained | C/T | snv | 1 | |||||
| rs1555874538 | 21 | 45504521 | frameshift variant | GGCCCCCC/- | del | 1 | |||||
| rs1556297584 | X | 107628675 | missense variant | C/T | snv | 1 | |||||
| rs1556300610 | X | 107645232 | missense variant | C/T | snv | 1 | |||||
| rs1569235803 | X | 38286052 | stop gained | C/A | snv | 1 | |||||
| rs61752419 | 1 | 94042786 | stop gained | C/T | snv | 1 | |||||
| rs760430056 | 16 | 57904824 | frameshift variant | C/-;CC | delins | 1 | |||||
| rs762078182 | 4 | 15994057 | frameshift variant | T/-;TT | delins | 1 | |||||
| rs764163418 | 6 | 65384474 | frameshift variant | T/-;TT | delins | 1 | |||||
| rs769156393 | 8 | 54622243 | stop gained | C/T | snv | 1 |