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 |