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. 2015 Jul 19;9(1):15. doi: 10.1186/s40246-015-0038-y

Table 3.

Pathogenic or likely pathogenic variants identified on ES in samples without prior known molecular diagnosis

Gene Phenotype of gene Variant Protein change Zygosity
SCN5A BrSa, DCMb, Familial atrial fib, Long QT c.4867C > T p.Arg1623* Heterozygous
DSP ARVDc, DCM c.928dupG p.Glu310Glyfs*13 Heterozygous
KCNE1 Long QT c.226G > A p.Asp76Asn Heterozygous
KCNH2 Long QT, Short QT c.1750G > A p.Gly584Ser Heterozygous
KCNQ1 Familial atrial fib, Long QT, Short QT c.513C > A p.Tyr171* Heterozygous

aBrugada syndrome, bDilated cardiomyopathy, cArrhythmogenic right ventricular dysplasia