| Gene | Ex./In. | Mutation name (c.DNA) | Amino acid change | MAF/minor allele count in EVS | dbSNP | ||
|---|---|---|---|---|---|---|---|
| Egyptian | European American | African American | |||||
| MYBPC3 | Ex.4 | c.472G > A | V158M | T = 0.06/12 | T = 0.0864/718 | T = 0.0171/69 | rs3729986 |
| MYBPC3 | In.5 | c.506-12delC | NA | Del. = 0.23/46 | – | – | rs11570050 |
| MYBPC3 | In.11 | c.927-46G > C | NA | G = 0.005/1 | G = 0.0001/1 | G = 0.016/62 | rs73451796 |
| MYBPC3 | In.13 | c.1223 + 29G > A | NA | T = 0.01/2 | T = 0.1174/958 | T = 0.0366/ 141 | rs11570078 |
| MYBPC3 | In.14 | c.1227-19C > A | NA | T = 0.02/4 | – | – | – |
| MYBPC3 | In.14 | c.1227-32T > A | NA | T = 0.005/1 | – | – | – |
| MYBPC3 | In.16 | c.1458-26C > G | NA | C = 0.005/1 | C = 0.0/0 | C = 0.0112/47 | rs11570081 |
| MYBPC3 | In.22 | c.2149-5C > T | NA | A = 0.005/1 | – | – | rs36211722 |
| MYBPC3 | In.22 | 2148 + 39T > C | NA | G = 0.005/1 | – | – | |
| MYBPC3 | In.23 | c.2308 + 18C > T | NA | A = 0.015/3 | – | – | – |
| MYBPC3 | In.26 | c.2737 + 12C > T | NA | A = 0.025/5 | A = 0.0257/206 | A = 0.0513/192 | rs3729936 |
| MYH7 | In.11 | c.999 + 44T > C | NA | G = 0.005/1 | G = 0.0886/762 | G = 0.4017/1770 | rs3729810 |
| MYH7 | In.16 | c.1888 + 23G > A | NA | T = 0.02/4 | – | – | – |
| MYH7 | In.20 | c.2287-43C > T | NA | A = 0.005/1 | A = 0.0001/1 | A = 0.0/0 | – |
| MYH7 | In.23 | c.2923-18G > A | NA | T = 0.02/4 | T = 0.0009/8 | T = 0.1512/666 | rs7157087 |
| MYH7 | In.27 | c.3337-3dup | NA | Dup. = 0.08/16 | – | – | rs45504498 |
| MYH7 | In.28 | c.3853 + 27T > A | NA | T = 0.01/2 | T = 0.3628/3120 | T = 0.6239/4406 | rs2277475 |
| MYH7 | In.32 | c.4520-3C > T | NA | A = 0.005/1 | – | – | – |
| MYH7 | Ex.32 | c.4472C > G | S1491C | C = 0.005/1 | C = 0.0115/99 | C = 0.003/13 | rs3729823 |
| TNNT2 | In.2 | c.41 + 75C > G | NA | C = 0.005/1 | C = 0.0/0 | C = 0.0275/38 | rs10920185 |
| TNNT2 | In.2 | c.41 + 86C > A | NA | T = 0.005/1 | – | – | – |
| TNNT2 | In.2 | c.42-20G > A | NA | T = 0.025/5 | T = 0.0001/1 | T = 0.035/154 | rs45561443 |
| TNNT2 | In.3 | c.53-7_11del | NA | Del. = 0.41/82 | – | – | rs45533739 |
| TNNT2 | In.6 | c.133 + 12G > A | NA | T = 0.025/5 | T = 0.0003/3 | T = 0.0502/221 | rs45580032 |
| TNNT2 | EX.6 | c.83C > T | A28V | A = 0.005/1 | – | – | – |
| TNNT2 | In.8 | c.203 + 7G > A | NA | T = 0.005/1 | – | – | – |
| TNNT2 | In.8 | c.203 + 67G > A | NA | T = 0.01/200 | T = 0.9991/3179 | T = 0.9234/1384 | rs1573230 |
| TNNT2 | In.9 | c.264 + 7G > A | NA | T = 0.005/1 | T = 0.0003/3 | T = 0.0311/137 | rs45490292 |
| TNNT2 | Ex.15 | c.740A > G | K247R | C = 0.03/6 | – | – | – |
| TNNT2 | In.15 | c.781-61A > G | NA | C = 0.02/4 | – | – | |
| TNNT2 | In.15 | c.781-33C > T | NA | A = 0.025/5 | A = 0.102/877 | A = 0.4639/2044 | rs2275863 |
| TNNT2 | In.16 | c.821 + 22C > T | NA | A = 0.005/1 | A = 0.0001/1 | A = 0.0402/177 | rs45495692 |
| TNNT2 | In.16 | c.821 + 43C > T | NA | A = 0.01/2 | A = 0.0003/3 | A = 0.032/141 | rs45570832 |
| TNNT2 | In.16 | c.821 + 46C > T | NA | A = 0.015/3 | A = 0.0283/243 | A = 0.0057/25 | rs45576635 |
Alleles frequency of European and African Americans were obtained from the Exome Variant Server (EVS) [36]
MYBPC3 NM_000256.3, MYH7 NM_000257.2, TNNT2 NM_001001430.1, Ex exon, In intron