Through the mutation data visualization, we found that among the 144 mutated genes in 39 children with hyperthyroidism, the top 15 most mutated genes were TTN, PRUNE2, CDH23, RYR1, SPINK5, SCN10A, VWF, NOTCH3, MYO3B, TG, LAMA2, KANK1, APC, TECTA, PCDH15, and the top 45 genes with high mutation frequencies had mutations in each patient. The gene discussed is SPINK5; the disease is hyperthyroidism.