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Table 1 Selected hypertrophic cardiomyopathy genes

From: Rapid molecular genetic diagnosis of hypertrophic cardiomyopathy by semiconductor sequencing

Nr. Gene Ensembl number Chromosome CDS, n Amplicons, n Target, bp Missed#, bp Coverage*,%
1 MYBPC3 ENSG00000134571 chr11 32 46 3826 9 99.8
2 MYH7 ENSG00000092054 chr14 38 54 5808 127 97.8
3 TNNT2 ENSG00000118194 chr1 21 17 1286 0 100
4 ACTC1 ENSG00000159251 chr15 6 10 1134 0 100
5 TNNI3 ENSG00000129991 chr19 7 8 632 0 100
6 TPM1 ENSG00000140416 chr15 16 19 1429 0 100
7 MYL2 ENSG00000111245 chr12 7 7 501 0 100
8 MYL3 ENSG00000160808 chr3 6 8 588 71 87.9
9 TCAP ENSG00000173991 chr17 2 4 504 0 100
10 PRKAG2 ENSG00000106617 chr7 18 22 1795 74 95.9
11 TNNC1 ENSG00000114854 chr3 6 7 486 10 97.9
12 CSRP3 ENSG00000129170 chr11 5 6 585 0 100
13 MYH6 ENSG00000197616 chr14 37 55 5820 216 96.3
14 PLN ENSG00000198523 chr6 1 10 1503 364 75.8
15 MYOZ2 ENSG00000172399 chr4 5 10 795 0 100
16 ACTN2 ENSG00000077522 chr1 21 27 2685 0 100
17 JPH2 ENSG00000149596 chr20 6 17 2102 155 92.6
18 LAMP2 ENSG00000005893 chrX 11 19 1516 0 100
19 CAV3 ENSG00000182533 chr3 2 4 456 0 100
20 VCL ENSG00000035403 chr10 22 37 3405 39 98.9
21 ANKRD1 ENSG00000148677 chr10 9 10 960 0 100
22 GLA ENSG00000102393 chrX 7 13 1290 0 100
23 LDB3 ENSG00000122367 chr10 16 26 2508 0 100
24 CALR3 ENSG00000269058 chr19 9 13 1155 22 98.1
25 MYLK2 ENSG00000101306 chr20 12 22 1791 0 100
26 RYR2 ENSG00000198626 chr1 105 165 14904 74 99.5
27 CASQ2 ENSG00000118729 chr1 11 14 1200 0 100
28 FXN ENSG00000165060 chr9 8 10 874 32 96.3
29 LMO4 ENSG00000143013 chr1 4 6 498 0 100
30 NEXN ENSG00000162614 chr1 12 25 2028 111 94.5
  1. Ensembl: June 2013 (GRCh37/hg19). CDS, coding sequence; *indicates in silico coverage of target sequences by multiplex PCR; #indicates in silico missed bases by multiplex PCR.