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Table 3 Variants detected by semiconductor sequencing of the seven selected genes in eight samples

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

Gene Position Type Zygosity Nucleotide substitution Variant frequency P-value# Coverage Consequence Novelty No. of patients Validated by Sanger sequencing
ACTC1 15:35084215 SNP Het C/G 47.94 6.3E-06 413 intron rs3729755 5 Yes
ACTN2 1:236899042 SNP Het G/A 44.09 2.5E-05 254 intron rs2288600 2 Yes
1:236902865 SNP Het A/C 55.93 1.0E-10 59 intron rs2288602 8 Yes
1:236910983 SNP Het G/A 50.83 5.0E-05 303 missense rs80257412 1 Yes
1:236902594 SNP Het C/G 49.1 6.3E-05 387 splice region rs2288601 8 Yes
1:236882303 SNP Hom T/C 100 2.5E-07 299 synonymous rs1341864 8 Yes
1:236883421 SNP Hom C/T 100 2.5E-07 301 synonymous rs1341863 8 Yes
1:236898942 SNP Het G/C 44.86 5.0E-05 185 synonymous rs2288599 1 Yes
1:236925844 SNP Het G/A 47.51 1.6E-05 402 synonymous rs12063382 1 Yes
JPH2 20:42745062 SNP Het C/G 51.85 1.6E-05 542 intron rs184801349 1 Yes
20:42814931 SNP Hom T/C 100 2.0E-04 68 intron rs6031442 2 Yes
20:42747247 SNP Het C/T 51.85 6.3E-06 675 missense rs3810510 6 Yes
20:42743454 SNP Het A/G 61.57 5.0E-05 216 synonymous rs6093935 2 Yes
20:42815190 SNP Het G/A 48.17 4.0E-05 764 synonymous rs1883790 8 Yes
MYBPC3 11:47361084 SNP Hom T/C 99.59 1.3E-06 245 intron rs2856653 8 Yes
11:47364248 SNP Het C/T 48.39 6.3E-06 839 missense CM981325 1 Yes
11:47370041 SNP Het T/C 48.2 4.0E-05 639 missense rs3729989 1 Yes
11:47354782 SNP Het C/T 62.19 2.0E-05 283 stop gained Novel 2 Yes
11:47354787 SNP Het C/T 50.92 6.3E-05 218 synonymous rs1052373 8 Yes
MYH7 14:23882144 SNP Hom T/C 95.41 4.0E-07 283 intron rs2284651 2 Yes
14:23883195 SNP Het G/A 52.63 3.2E-05 779 intron rs3729499 1 Yes
14:23900093 SNP Hom C/T 99.66 1.6E-08 594 intron rs45580436 1 Yes
14:23902974 SNP Het C/A 55.58 2.0E-05 403 intron rs3729992 1 Yes
14:23895179 SNP Het C/T 47.07 5.0E-06 871 missense rs121913641 1 Yes
14:23895180 SNP Het G/A 48.93 7.9E-06 750 missense rs121913637 1 Yes
14:23902806 SNP Het A/G 45.93 2.0E-05 405 missense Novel 8 No
14:23892888 SNP Hom A/G 100 1.6E-08 582 synonymous rs7157716 2 Yes
14:23899060 SNP Het G/A 52.54 5.0E-05 788 synonymous rs735712 1 Yes
14:23900794 SNP Het G/A 45.06 5.0E-05 466 synonymous rs2069542 1 Yes
14:23902753 SNP Het G/A 34.09 6.3E-06 44 synonymous rs2069540 4 Yes
MYOZ2 4:120079159 SNP Hom A/G 98.14 2.0E-07 322 intron rs11721566 8 Yes
4:120106982 SNP Hom T/C 99.54 1.6E-06 217 intron rs7661020 7 Yes
4:120057709 SNP Het A/C 46.36 7.9E-05 302 missense rs76757102 2 Yes
PRKAG2 7:151265714 SNP Hom C/T 100 2.0E-06 177 intron rs2241053 5 Yes
7:151292395 INS Hom –/T 84.34 1.0E-10 281 intron Novel 8 No
7:151292395 SNP Het A/T 30.58 3.2E-05 121 intron rs35348247 6 Yes
7:151478406 SNP Het C/T 51.55 1.6E-05 419 missense rs79474211 1 Yes
7:151483612 SNP Het C/T 47.25 4.0E-05 946 missense rs144857453 1 Yes
  1. # P-value was generated automatically by the Ion Torrent platform-specific software Torrent Suite v3.6.2, detail refer to Supplementary materials.