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Table 1 The number of T and A at the site to be tested in the total read length of patient’s family members

From: A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report

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
  1. HiSeq deep sequencing demonstrated low-grade mosaicism in the patient’s younger sister and parents