Sample | Ref | Alt | Ref | Alt | Total | Alt detection ratio (X) (%) | Alt calculating ratio (Y) (%) |
---|---|---|---|---|---|---|---|
DNA from patient’s younger sister | T | A | 99,254 | 98,266 | 199,990 | 49.14 | 48.8099 |
DNA from blood of patient’s father | T | A | 197,737 | 226 | 199,986 | 0.11 | − 0.2469 |
DNA from blood of patient’s mother | T | A | 192,109 | 5917 | 199,992 | 2.96 | 2.6007 |
DNA from mouth mucosa of patient’s father | T | A | 141,449 | 162 | 143,068 | 0.11 | − 0.2467 |
DNA from mouth mucosa of patient’s mother | T | A | 197,106 | 961 | 199,988 | 0.48 | 0.1209 |
DNA from hair blubs of patient’s father | T | A | 13,098 | 47 | 13,265 | 0.35 | − 0.0054 |
DNA from hair blubs of patient’s mother | T | A | 181,637 | 11,293 | 195,019 | 5.79 | 5.4348 |
DNA from sperm of patient’s father | T | A | 171,327 | 187 | 173,214 | 0.11 | − 0.2520 |