Table 2.

Gene Sequencing Revealed TTR Gene Missense Mutation

Test Content	Exons 1, 2, 3 and 4 of TTR Gene
Test	PCR, Gene Sequencing
Test Results	Gene	Exon (Including Some Surrounding Introns)	Variation Type	Variation Sit	Variation Site Remarks
	TTR (NM_000371)	Exons 1	No	No	No
		Exons 2	Missense mutation	c.148G>T (p.Val50Met)(Heterozygous)	It is the pathogenic variant of patients with hattr
		Exons 3	No	No	No
		Exons 4	No	No	No

Abbreviations: TTR, transthyroxine amyloidosis; hATTR, hereditary transthyroxine amyloidosis.