Table 1.
Genotype Determinations by Onco1700 for Clinically Actionable SNPs (n = 21)
| rsID | Allele | No. Heterozygous | No. Homozygous | Sequencing Notes |
|---|---|---|---|---|
| TPMT | ||||
| rsl800462 | *2 | 2 | 0 | |
| rsl800460 | *3B | 10 | 0 | |
| rs1142345 | *3C | 13 | 0 | |
| rs1800584 | *4 | 0 | 0 | |
| DPYD | ||||
| rs3918290 | *2 | 2 | 0 | |
| rs55886062 | *13 | 0 | 0 | |
| rs67376798 | NA | 2 | 0 | |
| CYP2C19 | ||||
| rs4244285 | *2 | 44 | 4 | |
| rs4986893 | *3 | 0 | 0 | |
| rs28399504 | *4 | 1 | 0 | |
| rs56337013 | *5 | 0 | 0 | |
| rs72552267 | *6 | 0 | 0 | |
| rs72558186 | *7 | 0 | 0 | |
| rs41291556 | *8 | 0 | 0 | |
| rs12248560 | *17 | 48 | 10 | |
| CYP3A5 | ||||
| rs776746 | *3 | 0 | 0 | Low read depth |
| rs10264272 | *6 | 3 | 0 | |
| rs41303343 | *7 | 0 | 0 | |
| UGT1A1 | ||||
| rs4148323 | *6 | 0 | 0 | |
| rs8175347 | *28 | 0 | 0 | Repeat misalignment |
| rs887829 | *80 | 0 | 0 | Low read depth |
Abbreviations: NA, not applicable; SNP, single-nucleotide polymorphism.