Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review

Figure 2 Sanger sequencing images of pedigree mutation type in SLC12A3. The sequence diagram from the first to the fourth row represents the mother, father, proband, and son or daughter, respectively. A: The NM_000339.2:c.488C>T(p.Thr163Met) (indicated by the red arrow) is a heterozygous missense mutation in exon 3; B: The NM_000339.2:c.1171_1178dupGCCACCAT(p.Ile393fs) (indicated by the red arrow) is a heterozygous frameshift mutation in exon 9; C: The NM_000339.2:c.2612G>A(p.Arg871His) (indicated by the red arrow) is a heterozygous missense mutation in exon 22.