Table. 2.

Table 2

Detailed information on the TSHR variants detected in this study

Genomic position (hg38, chr14)	Exon	rs ID	cDNA change	Amino acid change	N patients (AF)^*	AF in public database^†
81557414	exon5	rs760874290	c.394G>C	p.G132R	10 (0.0163)	0.00054
81574751	exon8	rs771936985	c.647T>C	p.I216T	1 (0.0014)	0.00022
81606039	exon9	NA	c.709A>G	p.S237G	1 (0.0014)	0
81606063	exon9	rs189506473	c.733G>A	p.G245S	4 (0.0054)	0.00114
81606153	exon9	rs180762551	c.823G>A	p.A275T	1 (0.0014)	0.00033
81609317	exon10	rs142122217	c.915T>A	p.S305R	2 (0.0027)	0.00326
81609697	exon10	rs368268514	c.1295A>G	p.N432S	2 (0.0027)	0.00016
81609751	exon10	rs189261858	c.1349G>A	p.R450H	17 (0.0272)	0.00256
81609976	exon10	rs200138601	c.1574T>C	p.F525S	5 (0.0068)	0.00180
81609978	exon10	rs777308150	c.1576G>A	p.A526T	1 (0.0014)	0.00022
81609993	exon10	rs139892516	c.1591C>T	p.R531W	1 (0.0014)	0.00011
81610040	exon10	NA	c.1638G>C	p.W546C	1 (0.0014)	0
81610227	exon10	rs763679435	c.1825C>T	p.R609X	2 (0.0027)	0
81610240	exon10	rs540799629	c.1838A>G	p.Y613C	2 (0.0027)	0.00054
81610468	exon10	rs761341933	c.2066T>G	p.V689G	3 (0.0041)	0.00054
81610585	exon10	NA	c.2183T>C	p.M728T	1 (0.0014)	0.00016
81610674	exon10	rs746522401	c.2272G>A	p.E758K	4 (0.0054)	0.00033

*Allele frequency in our congenital hypothyroidism sample bank.

^†Allele frequency in the gnomAD exome Eastern Asian database.

Abbreviations: TSHR, thyroid-stimulating hormone receptor gene; rs ID, reference SNP identification; AF, allele frequency; NA, not applicable.