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. 2019 Oct 22;33(2):124–130. doi: 10.1093/ajh/hpz172

Table 1.

Frequency of variant KCNJ5 p.Gly151Arg detected by deep sequencing in different tissues of the individual in study and the parents

Patient code Tissue sample Gene cDNA Protein Total number of reads Mutation frequency (%)
ADT102.01 (patient) Right adrenal fat KCNJ5 c.451G>A p.Gly151Arg 1,652,034 0.16
ADT102.01 (patient) Left adrenal fat KCNJ5 c.451G>A p.Gly151Arg 1,393,092 0.11
ADT102.01 (patient) Blood KCNJ5 c.451G>A p.Gly151Arg 1,114,362 0.23
ADT102.01 (patient) Swab KCNJ5 c.451G>A p.Gly151Arg 1,397,124 0.10
ADT102.01 (patient) Nodule KCNJ5 c.451G>A p.Gly151Arg 985,195 38.783
ADT102.02 (father) Blood KCNJ5 WT WT 1,863,106 0.00
ADT102.04 (mother) Blood KCNJ5 WT WT 1,885,344 0.00
Negative control (WT) Blood KCNJ5 WT WT 1,181,736 0.00

Abbreviations: WT, wild type.