Table 1 Variants associated with hypertrophic cardiomyopathy present in the ESP population
|  |  |  | European Americans—genotype | African Americans—genotype | All—genotype |  |  | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Gene | Variant | Amino acid | Minor/minor | Minor/major | Major/major | Minor/minor | Minor/major | Major/major | Minor/minor | Minor/major | Major/major | Family co-segregation/functional effect a | Polyphen-2 prediction |
ACTC1 | — | — | — | — | — | — | — | — | — | — | — | — | — |
ACTN2 | c.1484C>T | T495M | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | Yes/NA | Benign |
AGK | — | — | — | — | — | — | — | — | — | — | — | — | — |
ANKRD1 | c.368C>T | T123M | 0 | 2 | 4298 | 0 | 1 | 2202 | 0 | 3 | 6500 | No/Yes | Benign |
| Â | c.838A>G | I280V | 0 | 3 | 4297 | 0 | 0 | 2203 | 0 | 3 | 6500 | No/Yes | Benign |
CALM3 | — | — | — | — | — | — | — | — | — | — | — | — | — |
CALR3 | c.218G>A | R73Q | 0 | 0 | 4300 | 0 | 1 | 2202 | 0 | 1 | 6502 | No/No | Probably damaging |
| Â | c.245A>G | K82R | 0 | 13 | 4287 | 0 | 0 | 2203 | 0 | 13 | 6490 | No/No | Benign |
CASQ2 | — | — | — | — | — | — | — | — | — | — | — | — | — |
CAV3 | — | — | — | — | — | — | — | — | — | — | — | — | — |
COA5 | — | — | — | — | — | — | — | — | — | — | — | — | — |
COX15 | c.649C>T | R217W | 0 | 0 | 4300 | 0 | 1 | 2202 | 0 | 1 | 6502 | NA/Yes | Probably damaging |
CSRP3 | c.136A>C | S46R | 0 | 3 | 4290 | 0 | 0 | 2199 | 0 | 3 | 6489 | Yes/NA | Probably damaging |
| Â | c.190C>T | R64C | 0 | 2 | 4291 | 0 | 0 | 2199 | 0 | 2 | 6490 | No/NA | Possibly damaging |
| Â | c.299G>A | R100H | 0 | 7 | 4286 | 0 | 0 | 2199 | 0 | 7 | 6485 | NA/NA | Possibly damaging |
DES | — | — | — | — | — | — | — | — | — | — | — | — | — |
FXN | — | — | — | — | — | — | — | — | — | — | — | — | — |
JPH2 | c.1513G>A | G505S | 0 | 19 | 2356 | 0 | 28 | 930 | 0 | 47 | 3286 | Yes/No | Benign |
KLF10 | c.610G>A | A204T | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 2 | 6502 | NA/Yes | Benign |
| Â | c.674G>A | S225N | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | NA/Yes | Benign |
MRPL3 | — | — | — | — | — | — | — | — | — | — | — | — | — |
MYH6 | c.166G>Ab | G56R | 33 | 693 | 3574 | 14 | 256 | 1933 | 47 | 949 | 5507 | No/NA | Possibly damaging |
MYH7 | c.77C>T | A26V | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 2 | 6502 | NA/NA | Benign |
| Â | c.115G>A | V39M | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | NA/NA | Probably damaging |
| Â | c.958G>A | V320M | 0 | 2 | 4298 | 0 | 0 | 2203 | 0 | 2 | 6501 | No/NA | Probably damaging |
| Â | c.976G>C | A326P | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | NA/NA | Benign |
| Â | c.1988G>A | R663H | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | NA/NA | Benign |
| Â | c.2183C>T | A728V | 0 | 2 | 4298 | 0 | 1 | 2202 | 0 | 3 | 6500 | Yes/NA | Benign |
| Â | c.2359C>T | R787C | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | NA/NA | Possibly damaging |
| Â | c.2360G>A | R787H | 0 | 0 | 4300 | 0 | 1 | 2202 | 0 | 1 | 6502 | NA/NA | Possibly damaging |
| Â | c.2389G>A | A797T | 0 | 0 | 4300 | 0 | 1 | 2202 | 0 | 1 | 6502 | Yes/Yes | Benign |
| Â | c.2585C>Tb | A862V | 0 | 0 | 4300 | 0 | 1 | 2202 | 0 | 1 | 6502 | NA/NA | Benign |
| Â | c.2608C>T | R870C | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | NA/NA | Probably damaging |
| Â | c.2945T>C | M982T | 0 | 19 | 4281 | 0 | 3 | 2200 | 0 | 22 | 6481 | NA/NA | Possibly damaging |
| Â | c.3301G>A | G1101S | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | NA/NA | Benign |
| Â | c.3981C>A | N1327K | 0 | 1 | 4298 | 0 | 0 | 2202 | 0 | 1 | 6500 | Yes/NA | Possibly damaging |
| Â | c.4052C>T | T1351M | 0 | 2 | 4298 | 0 | 0 | 2203 | 0 | 2 | 6501 | NA/NA | Benign |
| Â | c.4258C>T | R1420W | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | NA/NA | Probably damaging |
| Â | c.4377G>T | K1459N | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | NA/NA | Probably damaging |
| Â | c.4423C>Tb | R1475C | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | NA/NA | Probably damaging |
| Â | c.4472C>Gb | S1491C | 0 | 99 | 4201 | 0 | 13 | 2190 | 0 | 112 | 6391 | NA/NA | Benign |
| Â | c.4909G>A | A1637T | 0 | 1 | 4299 | 0 | 5 | 2198 | 0 | 6 | 6497 | NA/NA | Benign |
| Â | c.5305C>A | L1769M | 0 | 2 | 4295 | 0 | 0 | 2203 | 0 | 2 | 6498 | NA/NA | Probably damaging |
| Â | c.5536C>T | R1846C | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | NA/NA | Probably damaging |
| Â | c.5561C>T | T1854M | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | NA/NA | Possibly damaging |
MYBPC3 | c.13G>C | G5R | 0 | 7 | 4152 | 0 | 3 | 1964 | 0 | 10 | 6116 | No/NA | Probably damaging |
| Â | c.184A>C | T62P | 0 | 3 | 4286 | 0 | 0 | 2193 | 0 | 3 | 6479 | NA/NA | Benign |
| Â | c.223G>A | D75N | 0 | 1 | 4272 | 0 | 0 | 2191 | 0 | 1 | 6463 | NA/NA | Probably damaging |
| Â | c.461T>C | I154T | 0 | 0 | 4149 | 0 | 2 | 2020 | 0 | 2 | 6169 | NA/NA | Benign |
| Â | c.478C>T | R160W | 0 | 1 | 4150 | 0 | 1 | 2025 | 0 | 2 | 6175 | NA/NA | Probably damaging |
| Â | c.529C>T | R177C | 0 | 1 | 4198 | 0 | 0 | 2065 | 0 | 1 | 6263 | NA/NA | Probably damaging |
| Â | c.624G>C | Q208H | 0 | 5 | 4214 | 0 | 0 | 2112 | 0 | 5 | 6326 | NA/NA | Probably damaging |
| Â | c.646G>A | A216T | 0 | 1 | 4203 | 0 | 6 | 2068 | 0 | 7 | 6271 | NA/NA | Benign |
| Â | c.649A>Gb | S217G | 0 | 10 | 4149 | 0 | 2 | 2073 | 0 | 12 | 6267 | NA/NA | Possibly damaging |
| Â | c.682G>A | D228N | 0 | 1 | 4193 | 0 | 0 | 2093 | 0 | 1 | 6286 | NA/NA | Benign |
| Â | c.706A>Gb | S236G | 69 | 922 | 3206 | 8 | 223 | 1851 | 77 | 1145 | 5057 | No/NA | Possibly damaging |
| Â | c.787G>A | G263R | 0 | 1 | 4073 | 0 | 0 | 1894 | 0 | 1 | 5967 | NA/NA | Possibly damaging |
| Â | c.818G>A | R273H | 0 | 1 | 4061 | 0 | 0 | 1903 | 0 | 1 | 5964 | Yes/NA | Probably damaging |
| Â | c.833G>A | G278E | 0 | 1 | 4109 | 0 | 62 | 1909 | 0 | 63 | 6018 | NA/NA | Benign |
| Â | c.836G>C | G279A | 0 | 0 | 4114 | 0 | 1 | 1972 | 0 | 1 | 6086 | NA/NA | Benign |
| Â | c.977G>Ab | R326Q | 0 | 32 | 4233 | 0 | 0 | 2161 | 0 | 32 | 6394 | Yes/NA | Possibly damaging |
| Â | c.1246G>A | G416S | 0 | 0 | 4224 | 0 | 3 | 2111 | 0 | 3 | 6335 | NA/NA | Probably damaging |
| Â | c.1286C>T | A429V | 0 | 0 | 4250 | 0 | 5 | 2124 | 0 | 5 | 6374 | NA/NA | Possibly damaging |
| Â | c.1321G>A | E441K | 0 | 2 | 4241 | 0 | 3 | 2135 | 0 | 5 | 6376 | NA/NA | Possibly damaging |
| Â | c.1370C>T | T457M | 0 | 1 | 4169 | 0 | 0 | 2047 | 0 | 1 | 6216 | NA/NA | Probably damaging |
| Â | c.1373G>A | R458H | 0 | 1 | 4160 | 0 | 1 | 2037 | 0 | 2 | 6197 | NA/NA | Benign |
| Â | c.1468G>A | G490R | 0 | 3 | 4235 | 0 | 1 | 2125 | 0 | 4 | 6360 | Yes/NA | Probably damaging |
| Â | c.1504C>T | R502W | 0 | 1 | 4259 | 0 | 0 | 2159 | 0 | 1 | 6418 | Yes/NA | Probably damaging |
| Â | c.1519G>A | G507R | 0 | 3 | 4265 | 0 | 14 | 2155 | 0 | 17 | 6420 | NA/NA | Probably damaging |
| Â | c.1564G>A | A522T | 0 | 7 | 4257 | 0 | 15 | 2146 | 0 | 22 | 6403 | No/No | Benign |
| Â | c.1624G>C | E542Q | 0 | 0 | 4208 | 0 | 1 | 2098 | 0 | 1 | 6306 | Yes/NA | Probably damaging |
| Â | c.1813G>Ab | D605N | 0 | 3 | 4169 | 0 | 1 | 2006 | 0 | 4 | 6175 | NA/NA | Possibly damaging |
| Â | c.1855G>A | E619K | 0 | 8 | 4161 | 0 | 0 | 2027 | 0 | 8 | 6188 | Yes/NA | Possibly damaging |
| Â | c.2035C>T | P679S | 0 | 0 | 4151 | 0 | 1 | 1985 | 0 | 1 | 6136 | NA/NA | Probably damaging |
| Â | c.2269G>A | V757M | 0 | 1 | 4211 | 0 | 0 | 2098 | 0 | 1 | 6309 | NA/NA | Possibly damaging |
| Â | c.2311G>A | V771M | 0 | 1 | 3954 | 0 | 1 | 1946 | 0 | 2 | 5900 | Yes/NA | Probably damaging |
| Â | c.2320G>A | A774T | 0 | 1 | 4009 | 0 | 0 | 1981 | 0 | 1 | 5990 | NA/NA | Benign |
| Â | c.2374T>C | W792R | 0 | 1 | 4157 | 0 | 0 | 2038 | 0 | 1 | 6195 | NA/NA | Probably damaging |
| Â | c.2429G>A | R810H | 0 | 1 | 4243 | 0 | 0 | 2141 | 0 | 1 | 6384 | NA/NA | Probably damaging |
| Â | c.2497G>A | A833T | 0 | 15 | 4250 | 0 | 0 | 2165 | 0 | 15 | 6415 | Yes/NA | Possibly damaging |
| Â | c.2498C>Tb | A833V | 0 | 2 | 4263 | 1 | 95 | 2069 | 1 | 97 | 6332 | NA/NA | Probably damaging |
| Â | c.2618C>A | P873H | 0 | 1 | 4173 | 0 | 0 | 2007 | 0 | 1 | 6180 | NA/NA | Probably damaging |
| Â | c.2686G>A | V896M | 0 | 40 | 4111 | 0 | 6 | 1979 | 0 | 46 | 6090 | NA/NA | Benign |
| Â | c.2870C>G | T957S | 0 | 11 | 4131 | 0 | 0 | 1947 | 0 | 11 | 6078 | NA/NA | Benign |
| Â | c.2873C>T | T958I | 0 | 2 | 4140 | 0 | 0 | 1951 | 0 | 2 | 6091 | NA/NA | Benign |
| Â | c.2882C>T | P961L | 0 | 0 | 4151 | 0 | 1 | 1967 | 0 | 1 | 6118 | No/NA | Benign |
| Â | c.3049G>A | E1017K | 0 | 1 | 4245 | 0 | 0 | 2144 | 0 | 1 | 6389 | NA/NA | Benign |
| Â | c.3137C>T | T1046M | 0 | 1 | 4265 | 0 | 0 | 2187 | 0 | 1 | 6452 | NA/NA | Benign |
| Â | c.3392T>Cb | I1131T | 0 | 4 | 4149 | 0 | 3 | 2013 | 0 | 7 | 6162 | NA/NA | Benign |
| Â | c.3641G>A | W1214X | 0 | 1 | 4121 | 0 | 0 | 1881 | 0 | 1 | 6002 | NA/NA | Unknown |
| Â | c.3742G>A | G1248R | 0 | 3 | 4141 | 0 | 0 | 1973 | 0 | 3 | 6114 | NA/NA | Probably damaging |
MYL2 | c.37G>A | A13T | 0 | 6 | 4294 | 0 | 0 | 2203 | 0 | 6 | 6497 | NA/Yes | Possibly damaging |
| Â | c.141C>A | N47K | 0 | 5 | 4295 | 0 | 0 | 2203 | 0 | 5 | 6498 | NA/Yes | Benign |
| Â | c.401A>C | E134A | 0 | 5 | 4295 | 0 | 0 | 2203 | 0 | 5 | 6498 | NA/NA | Probably damaging |
MYL3 | — | — | — | — | — | — | — | — | — | — | — | — | — |
MYLK2 | c.260C>T | A87V | 0 | 1 | 4278 | 0 | 0 | 2186 | 0 | 1 | 6464 | Yes/Yes | Probably damaging |
| Â | c.284C>A | A95E | 0 | 1 | 4288 | 1 | 27 | 2170 | 1 | 27 | 2170 | Yes/Yes | Probably damaging |
MYO6 | — | — | — | — | — | — | — | — | — | — | — | — | — |
MYOM1 | — | — | — | — | — | — | — | — | — | — | — | — | — |
MYOZ2 | c.738A>G | I246M | 0 | 2 | 4298 | 0 | 1 | 2202 | 0 | 3 | 6500 | NA/NA | Benign |
MYPN | c.59A>G | Y20C | 0 | 10 | 4290 | 0 | 2 | 2201 | 0 | 12 | 6491 | NA/Yes | Probably damaging |
| Â | c.3481C>A | L1161I | 0 | 3 | 4297 | 0 | 0 | 2203 | 0 | 3 | 6500 | NA/NA | Probably damaging |
NDUFAF1 | — | — | — | — | — | — | — | — | — | — | — | — | — |
NDUFV2 | — | — | — | — | — | — | — | — | — | — | — | — | — |
NEXN | — | — | — | — | — | — | — | — | — | — | — | — | — |
OBSCN | c.13031G>A | R4344Q | 0 | 14 | 4172 | 14 | 302 | 1754 | 14 | 316 | 5926 | NA/Yes | Possibly damaging |
PRKAG2 | — | — | — | — | — | — | — | — | — | — | — | — | — |
RAF1 | — | — | — | — | — | — | — | — | — | — | — | — | — |
SLC25A3 | — | — | — | — | — | — | — | — | — | — | — | — | — |
SLC25A4 | — | — | — | — | — | — | — | — | — | — | — | — | — |
SRI | c.334T>C | F112L | 0 | 1 | 4299 | 0 | 31 | 2172 | 0 | 32 | 6471 | NA/NA | Benign |
TAZ | — | — | — | — |  | — | — |  | — | — |  | — | — |
TCAP | c.316C>T | R106C | 0 | 36 | 4263 | 0 | 11 | 2191 | 0 | 47 | 6454 | NA/NA | Probably damaging |
| Â | c.458G>A | R153H | 0 | 2 | 4294 | 0 | 0 | 2198 | 0 | 2 | 6492 | Yes/Yes | Benign |
TNNC1 | — | — | — | — | — | — | — | — | — | — | — | — | — |
TNNI3 | c.244C>T | P82S | 0 | 1 | 3801 | 0 | 70 | 1652 | 0 | 71 | 5453 | NA/NA | Benign |
| Â | c.484C>T | R162W | 0 | 1 | 4156 | 0 | 0 | 1953 | 0 | 1 | 6109 | NA/Yes | Probably damaging |
| Â | c.586G>A | D196N | 0 | 1 | 4157 | 0 | 0 | 1974 | 0 | 1 | 6131 | NA/NA | Probably damaging |
TNNT2 | c.83C>Tb | A28V | 0 | 4 | 4296 | 0 | 0 | 2203 | 0 | 4 | 6499 | NA/NA | Benign |
| Â | c.230C>T | P77L | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | NA/NA | Benign |
| Â | c.732G>T | E244D | 0 | 0 | 4300 | 0 | 1 | 2202 | 0 | 1 | 6502 | Yes/Yes | Benign |
| Â | c.740A>G | K247R | 3 | 121 | 4176 | 58 | 540 | 1605 | 61 | 661 | 5781 | NA/Yes | Benign |
| Â | c.832C>T | R278C | 0 | 5 | 4294 | 0 | 1 | 2202 | 0 | 6 | 6496 | Yes/Yes | Probably damaging |
| Â | c.857G>A | R286H | 0 | 1 | 4298 | 0 | 0 | 2201 | 0 | 1 | 6499 | NA/NA | Probably damaging |
TPM1 | c.515T>C | I172T | 0 | 0 | 4300 | 0 | 1 | 2202 | 0 | 1 | 6502 | NA/NA | Benign |
TTN | — | — | — | — | — | — | — | — | — | — | — | — | — |
VCL | c.829C>A | L277M | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | NA/Yes | Benign |
