Table 4

Validation results of the seven selected variants
ID Ref Alt Gene Samples
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.

Li et al.

Li et al. Diagnostic Pathology 2014 9:25   doi:10.1186/1746-1596-9-25

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