Table 1

Name of the targeted genes, Ensembl accession number, chromosomal position and size

GeneEnsembl numberLocation
Chromosome: base range
Number (bp)
MYBPC3ENSG00000134571chr11:47352958–4737425321295
MYH7ENSG00000092054chr14:23881948–2390487022922
TNNI3ENSG00000129991chr19:55663137–556691005963
TNNT2ENSG00000118194chr1:201328143–20134680518662
TPM1ENSG00000140416chr15:63334838–6336411129273
MYL2ENSG00000111245chr12:111348626–1113584049778
MYL3ENSG00000160808chr3:46899357–469049735616
ACTC1ENSG00000159251chr15:35080297–350879277630
TNNC1ENSG00000114854chr3:52485108–524880572949
MYH6ENSG00000197616chr14:23851199–2387748226283
TTNENSG00000155657chr2:179390720–179672150281430
PDLIM3ENSG00000154553chr4:186422852–18645671233860
CSRP3ENSG00000129170chr11:19203578–1922358920011
DESENSG00000175084chr2:220283099–2202914598360
LMNAENSG00000160789chr1:156084461–15610987825417
LDB3ENSG00000122367chr10:88428426–8849582267396
VCLENSG00000035403chr10:75757872–75879912122040
TCAPENST00000309889chr17:37821599–378228061207
PLNENSG00000198523chr6:118869442–11888158612144
RBM20ENSG00000203867chr10:112404155–112599227195072
JUPENSG00000173801chr17:39910859–3994296432105
DSPENSG00000096696chr6:7541870–758694645076
PKP2ENSG00000057294chr12:32943682–33049780106098
DSG2ENSG00000046604chr18:29078027–2912881350786
DSC2ENSG00000134755chr18:28645944–2868238836444
RYR2ENSG00000198626chr1:237205702–237997288791586
TMEM43ENST00000306077chr3:14166440–1418518018740
TGF-β3ENST00000238682chr14:76424442–7644809223650
KCNQ1ENSG00000053918chr11:2466221–2870339404118
KCNH2ENSG00000055118chr7:150642050–15067501432964
SCN5AENSG00000183873chr3:38589554–38691164101610
KCNE1ENSG00000180509chr21:35818989–358280639074
KCNE2ENSG00000159197chr21:35736323–357434407117
ANK2ENST00000394537chr4:113970785–114304894334109
CASQ2ENSG00000118729chr1:116242628–11631142668798
CAV3ENSG00000182533chr3:8775496–878845012954
KCNJ2ENSG00000123700chr17:68165676–6817618110505
PLECENSG00000178209chr8:144989321–14502504435723
GJA1ENST00000282561chr6:121756745–12177087214127
PKP4ENSG00000144283chr2:159313476–159537938224462
PNNENSG00000100941chr14:39644387–396524218036
Total3285390
  • Ensembl: Feb. 2009 (GRCh37/hg19). The total size of genomic sequence for 41 loci was approximately 3 Mb, which was reduced to 2.1 Mb of capture sequence following the exclusion of repetitive DNA regions in the custom RNA bait library design with eArray (Agilent).

  • DES, desmin; PLN, phospholamban; VCL, vinculin, MYBPC3: myosin binding protein C, cardiac; MYH7: myosin, heavy chain 7, cardiac muscle, beta; TNNI3: troponin I type 3 (cardiac); TNNT2: troponin T type 2 (cardiac); TPM1: tropomyosin 1 (alpha); MYL2: myosin, light chain 2, regulatory, cardiac, slow; MYL3: myosin, light chain 3, alkali; ventricular, skeletal, slow; ACTC1: actin, alpha, cardiac muscle 1; TNNC1: troponin C type 1 (slow); MYH6: myosin, heavy chain 6, cardiac muscle, alpha; TTN: titin; PDLIM3: PDZ and LIM domain 3; CSRP3: cysteine and glycine-rich protein 3 (cardiac LIM protein); DES: desmin; LMNA: lamin A/C; LDB3: LIM domain binding 3; VCL: vinculin; TCAP: titin-cap; PLN: phospholamban; RBM20: RNA binding motif protein 20; JUP: junction plakoglobin; DSP: desmoplakin; PKP2: plakophilin 2; DSG2: desmoglein 2; DSC2: desmocollin 2; RYR2: ryanodine receptor 2 (cardiac); TMEM43: transmembrane protein 43; THFbeta3: transforming growth factor, beta 3; KCNQ1: potassium voltage-gated channel, KQT-like subfamily, member 1; KCNH2: potassium voltage-gated channel, subfamily H (eag-related), member 2; SCN5A: sodium channel, voltage-gated, type V, alpha subunit; KCNE1: potassium voltage-gated channel, Isk-related family, member 1; KCNE2: potassium voltage-gated channel, Isk-related family, member 2; ANK2: ankyrin 2, neuronal; CASQ2: calsequestrin 2 (cardiac muscle); CAV3: caveolin 3; KCNJ2: potassium inwardly-rectifying channel, subfamily J, member 2; PLEC: plectin; GJA1: gap junction protein, alpha 1, 43kDa; PKP4: plakophilin 4; PNN: pinin, desmosome associated protein.