Skip to main content
. Author manuscript; available in PMC: 2017 Jun 1.
Published in final edited form as: Heart Rhythm. 2016 May 5;13(8):1652–1660. doi: 10.1016/j.hrthm.2016.05.004

Table 2. Top 6 ranked variants identified using exome sequencing.

Gene symbol Gene name Cardiacexpression(fkpm) cDNA change Amino acid change CADD score 1KG MAF ESP count ExAC count
CASQ2 Cardiac calsequestrin 2 399 c.539A> G Lys180Arg 23 0 0 0
CCM2L Cerebral cavernous malformation 2-like Null c.235G> C Glu85Gln 34 0 2 17
GTF2E2 General transcription factor IIE 5.5 c.53C> T Ser18Phe 27 0 0 0
KCTD19 Potassium channel tetramerization domain containing 19 Null c.814G> A Gly272Arg 18 0 2 18
PKP3 Plakophilin 3b Null c.830G> C (homozygous) Arg277Pro 13 0 0 2712
EFCAB4B EF-hand calcium binding domain 4B 1.2 c.1389_1407del Tyr464Glufs*22 Null 0 0 0

1KG= 1000 Genomes Project; CADD = combined annotation-dependent depletion; cDNA = complementary DNA; ESP = Exome Sequencing Project; ExAC = Exome Aggregation Consortium; MAF = minor allele frequency.