Diagnostic Pathology

Table 4 Validation results of the seven selected variants

From: Exome sequencing identified new mutations in a Marfan syndrome family

ID	Ref	Alt	Gene	Samples
ID	Ref	Alt	Gene	4:1	3:5	3:1	3:2	3:4	3:6	3:7
1	C	G	CACNA1D	√	√	√	×	×	×	√
2	-	AGC	BMP6	√	√	√	√	√	×	√
3	G	A	*LRP1*	√	√	√	×	×	×	×
4	-	C	WNK1	√	√	√	×	√	√	×
5	G	T	*FBN1*	√	√	√	×	×	×	×
6	CAGCAG	-	MEF2A	√	√	√	√	√	√	√
7	TCC	-	*DSC2*	√	√	√	×	×	×	×

Note: The ID of each variant is in correspondence with that in Table 3. The id of each sample is in correspondence with that in Figure 1. “√” denotes same results as exome sequencing analysis and “×” means no variant was detected. Variants exist only in affected samples are shown in bold.

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ISSN: 1746-1596

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