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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