TABLE 1.
Expected compared to detected allele frequency with Q‐Seq HDx quantitative multiplex DNA reference standard
| Gene | AA | CHR | POS | REF | ALT | Expected allele frequency | Detected allele frequency (N = 4) | SE |
|---|---|---|---|---|---|---|---|---|
| EGFR | G719S | 7 | 55241707 | G | A | 24.5 | 25.9 | 1.55 |
| PIK3CA | H1047R | 3 | 178952085 | A | G | 17.5 | 18.2 | 1.95 |
| KRAS | G13D | 12 | 25398281 | C | T | 15.0 | 16.9 | 1.93 |
| NRAS | Q61K | 1 | 115256530 | G | T | 12.5 | 13.5 | 1.94 |
| BRAF | V600E | 7 | 140453136 | A | T | 10.5 | 9.2 | 0.30 |
| KIT | D816V | 4 | 55599321 | A | T | 10.0 | 9.7 | 1.20 |
| PIK3CA | E545K | 3 | 178936091 | G | A | 9.0 | 8.4 | 0.76 |
| KRAS | G12D | 12 | 25398284 | C | T | 6.0 | 5.6 | 0.90 |
| EGFR | L858R | 7 | 55259515 | T | G | 3.0 | 2.8 | 0.71 |
| EGFR | ΔR746‐A750 | 7 | 55242465‐55242479 | Del 15 bp | 2.0 | 1.5 | 0.35 | |
| EGFR | T790M | 7 | 55249071 | C | T | 1.0 | 1.0 | 0.50 |
Note: The detected allele frequency was called by Biomedical Genomic Workbench.