Table 7.

The compound heterozygous variants in the DNAH11 gene in CHD families with heterotaxy syndrome.

Family number	Proband	Gene	Base change	Amino acid change	Mutation type	SIFTa	Polyphen2a	Mutation Tastera	ExACb	1000_Genomes Projectb
1	#5031	DNAH11	c.G2406A	p.W802X	Stop-gain	D	NA	A	0	0
		DNAH11	c.G846C	p.M282I	Missense	D	B	N	<0.001	<0.001
2	#5045	DNAH11	c.C10379A	p.T3460K	Missense	D	D	D	<0.001	<0.001
		DNAH11	c.G13273A	p.G4425S	Missense	D	D	D	0	0
3	#5065	DNAH11	c.G1339A	p.G447R	Missense	T	B	N	0	0
		DNAH11	c.T3470G	p.L1157R	Missense	D	D	D	<0.001	<0.001
4	#5130	DNAH11	c.T6785C	p.I2262T	Missense	D	D	D	0	0
		DNAH11	c.G11398C	p.D3800H	Missense	T	B	D	0	0
5	#5707	DNAH11	c.T8275C	p.F2759L	Missense	T	D	D	<0.001	<0.001
		DNAH11	C13183T	p.R4395X	Stop-gain	NA	NA	A	NA	0
		DNAH11	c. 5470dupC	S1823fs	Frameshift	NA	NA	NA	NA	NA
6	#5062	DNAH11	c.A10829T	p.D3610V	Missense	T	D	D	<0.001	<0.001
		DNAH11	c.A727G	p.I243V	Missense	T	D	D	<0.001	<0.001

^aMutation assessment by SIFT, PolyPhen-2 (PPH2) and Mutation Taster. T: tolerant; P: probably damaging; D: disease causing; B: Benign; A: disease causing automatic; N: polymorphism.

^bFrequency of corresponding mutations in all populations of the ExAC Browser and 1000 Genomes Project (1KG). NA, not available.