BMC Medical Genetics

Table 2 EVC and EVC2 SNPs found to be informative in the nuclear family described in this manuscript

From: Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVCgene

	SNP	Exon	Father (IV-9)	Son (V-8)	Mother (IV-10)
EVC	rs35870680	2	AA	AA	AG
	rs6446393	6	TT	TT	TT
	rs6414624	6	CC	CC	CC
	rs2302075	10	CC	CC	AC
	rs1383180	12	AA	AA	AG
	rs34870578	16	CC	CC	C-
EVC2	rs4689278	5	GG	GG	GG
	rs35103377	12	T-	T-	TT
	rs12511039	20	CT	CC	CT

The cells include the genotypes of each family member. The "-" symbol indicates a deleted nucleotide for an indel SNP. The third SNP in the EVC2 excludes the linkage centromeric of this marker.

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ISSN: 1471-2350

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