A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication

Table 3 TBX1 variants identified in patients harboring RIPPLY3 variants

Patients ID	RIPPLY3 variants NP_061835.1	TBX1C variants			TBX1C variants allele frequency
Patients ID	RIPPLY3 variants NP_061835.1	NM_080647.1	NP_542378.1	SNP	CTD (n = 577)	Control (n = 361)	p value
F029	p.P30L	c.1189A>C	p.N397H	rs72646967	0.521	0.495	0.39
F166	p.T52S	–	–	–	–	–	–
A002	p.D113N	c.1189A>C	p.N397H	rs72646967	0.521	0.495	0.39
PI011	p.V179D	c.928G>A	p.G310C	rs41298838	0.0561	0.0556	0.95

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