. Author manuscript; available in PMC: 2014 Dec 1.

Published in final edited form as: Prenat Diagn. 2013 Oct 4;33(13):1242–1247. doi: 10.1002/pd.4239

Table 2.

Summary of NLRP7 and KHDC3L sequencing results.

Gene	Exon	Nucleotide change	Protein change	dbsNP ID	MAF Score	Present study (n=29; 58 chromosomes)
Gene	Exon	Nucleotide change	Protein change	dbsNP ID	MAF Score	Hmz	Htz	MAF
*NLRRP7*	2	c.251 G>A	p. Cys84Tyr	rs104895509	Unavailable	0	1	A=0.017/1
	4	c. 390G>A	p. Gln130Gln	rs775883	G=0.285/344	6	6	A=0.31/18
	4	c.955G>A	p.Val319Ile	rs775882	A=0.273/344	4	7	A=0.258/15
	4	c.1137G>C	p.Lys379Asn	rs10418277	T=0.168/211	3	7	C=0.224/13
	4	c.1441G>A	p.Ala481Thr	rs61747414	T=0.101/220	0	3	A=0.051/3
	4	c.1460G>A	p.Gly487Glu	rs775881	A=0.114/250	2	0	A=0.068/4
	4	c.1532A>G	p.Lys511Arg	rs61743949	C=0.021/45	0	1	G=0.017/1
	5	c.1981 C>T	p.Lys661Phe	Unavailable	Unavailable	1	0	T=0.034/2
	5	c.2095G>A	p.Val699Ile	rs77072552	T=0.005/5	0	1	A=0.017/1
	6	c.2148T>C	p.Pro716Pro	Unavailable	Unavailable	0	1	C=0.017/1
	6	c.2157G>A	p. Ala719Ala	Unavailable	Unavailable	0	1	C=0.017/1
	6	c.2248C>G	p.Leu750Val	rs104895512	Unavailable	2	1	G=0.086/5
	9	c.2682T>C	p. Tyr894Y	rs269951	A=0.434/546	12	12	A=0.62/36
	9	c.2775A>G	p.Ala925Ala	rs269950	A=0.434/546	12	12	A=0.62/36
Gene	Exon	Nucleotide change	Protein change	dbSNP	MAF Score	Present study (n=22; 44 chromosomes)
Gene	Exon	Nucleotide change	Protein change	dbSNP	MAF Score	Hmz	HTz	MAF
*KHDC3L*	2	c.289G>C	p.Glu97Gln	rs564533	C=0.071/155	0	3	C=0.068/3
*KHDC3L*	3	c.602C>G	p.Ala201Gly	rs561930	G=0.49/1072	4	7	G=0.341/15