Presumed PLPVs in 10 candidate genes
The presumed PLPVs in the 10 candidate genes are described in Tables
S1–S9. A total 557 variants were classified into PLPVs: 22 variants inSLC5A5 , 76 variants in TPO , 178 variants in TG , 20
variants in IYD , 36 variants in DUOXA2 , 138 variants inDUOX2 , 55 variants in TSHR , 8 variants in TSHB , and
24 variants in TRHR (Table 1). Of the 557 variants, only 71
variants (12.6%, 95% CI 9.9%–15.9%) were registered in the ClinVar
database: 18.2% (95% CI 4.9%–46.6%) in SLC5A5 , 15.8% (95%
CI 8.2%–27.6%) in TPO , 5.6% (95% CI 2.7%–10.3%) inTG , 20.0% (95% CI 5.5%–51.2%) in IYD , 8.3% (95% CI
1.7%–24.4%) in DUOXA2 , 15.9% (95% CI 10%–24.1%) inDUOX2 , 16.4% (95% CI 7.5%–31.1%) in TSHR , 50% inTSHB , 8.3% (95% CI 1.0%–30.1%) in TRHR . These 557
variants included 191 frameshift variants (34.3%, 95% CI
29.6%–39.5%), 188 nonsense variants (33.8%, 95% CI 29.1%–38.9%),
141 splice variants (25.3%, 95% CI 21.3%–29.9%), 29 missense
variants (5.2%, 95% CI 3.5%–7.5%), 6 initiation codon variations
(1.1%, 95% CI 0.4%–2.3%), and 2 in-frame deletion variants (0.4%,
95% CI 0.04%–1.3%) (Tables S1–S9).