TABLE 1.

The molecular genetics analysis of three patients.

Patient ID	Variant (paternal)	Variant (maternal)	Evidence of pathogenicity	ACMG classification
#1	c.413C > T, chr19: 17449372, (p. A138V)		PM2 + PM3 + PP3 + PP4	Likely pathogenic
		c.509_510del, chr19: 17449466, (p. E170Gfs*42)	PVS1 + PM2	Likely pathogenic
#2	c.544G > T, chr19: 17449503, (p.Gly182*)		PVS1 + PM2	Likely pathogenic
		c.785A > C, chr19: 17449956, (p.Q262P)	PM2 + BP4	Uncertain significance
#3	c.785A > C, chr19: 17449956, (p.Q262P)		PM2 + BP4	Uncertain significance
		c.424G > A, chr19:17449383, (p.E142K)	PM2 + PP3	Uncertain significance

Trio whole exome sequencing (WES) successfully defined GTPBP3 gene variations in chromosome 19 (GRCh37/hg19, NM_133644). Evidence of Pathogenicity were according to ACMG standards and guidelines 10.1038/gim.2015.30. And the missense prediction is analyzed on the website http://varcards.biols.ac.cn/.