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.