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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.

Ann Lab Med 2024;44:343~353 https://doi.org/10.3343/alm.2023.0337

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