Table 2 Variants associated with dilated 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 |
ABCC9 | — | — | — | — | — | — | — | — | — | — | — | — | — |
ACTC1 | — | — | — | — | — | — | — | — | — | — | — | — | — |
ACTN2 | c.26A>G | Q9R | 0 | 7 | 4293 | 0 | 0 | 2203 | 0 | 7 | 6496 | NA/Yes | Benign |
| Â | c.2323C>T | H775Y | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | NA/NA | Benign |
ANKRD1 | c.197G>A | R66Q | 0 | 9 | 4291 | 0 | 0 | 2203 | 0 | 9 | 6494 | No/No | Benign |
| Â | c.313C>T | P105S | 0 | 4 | 4295 | 0 | 0 | 2203 | 0 | 4 | 6498 | No/Yes | Probably damaging |
| Â | c.319G>T | V107L | 0 | 0 | 4300 | 0 | 39 | 2164 | 0 | 39 | 6464 | No/Yes | Benign |
| Â | c.827C>T | A276V | 0 | 50 | 4250 | 0 | 4 | 2199 | 0 | 54 | 6449 | No/Yes | Benign |
BAG3 | — | — | — | — | — | — | — | — | — | — | — | — | — |
CHRM2 | — | — | — | — | — | — | — | — | — | — | — | — | — |
CRYAB | 460G>A | G154S | 0 | 9 | 4288 | 0 | 1 | 2200 | 0 | 10 | 6488 | NA/NA | Benign |
| Â | c.470G>A | R157H | 0 | 1 | 4296 | 0 | 1 | 2200 | 0 | 2 | 6496 | NA/Yes | Probably damaging |
CSRP3 | c.10T>C | W4R | 0 | 46 | 4247 | 0 | 2 | 2197 | 0 | 48 | 6444 | NA/Yes | Possibly damaging |
| Â | c.148G>A | A50T | 0 | 2 | 4291 | 0 | 1 | 2198 | 0 | 3 | 6489 | NA/NA | Possibly damaging |
| Â | c.206A>G | K69R | 0 | 1 | 4292 | 0 | 0 | 2199 | 0 | 1 | 6491 | NA/Yes | Possibly damaging |
| Â | c.214G>Ab | G72R | 0 | 2 | 4291 | 0 | 0 | 2199 | 0 | 2 | 6490 | NA/NA | Probably damaging |
CTF1 | — | — | — | — | — | — | — | — | — | — | — | — | — |
DES | c.893C>T | S298L | 0 | 2 | 4298 | 0 | 1 | 2202 | 0 | 3 | 6500 | NA/Yes | Probably damaging |
| Â | c.934G>A | D312N | 0 | 0 | 4300 | 0 | 7 | 2196 | 0 | 7 | 6496 | NA/Yes | Probably damaging |
| Â | c.1048C>T | R350W | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | NA/Yes | Probably damaging |
| Â | c.1375G>A | V459I | 0 | 1 | 4299 | 2 | 153 | 2048 | 2 | 154 | 6347 | NA/Yes | Benign |
DMD | c.5016T>A | N1672K | 0 | 5 | 4295 | 7 | 244 | 1951 | 7 | 249 | 6246 | NA/NA | Possibly damaging |
| Â | c.9682T>C | F3228L | 0 | 0 | 4300 | 0 | 1 | 2201 | 0 | 1 | 6501 | NA/NA | Probably damaging |
DNAJC19 | — | — | — | — | — | — | — | — | — | — | — | — | — |
DOLK | — | — | — | — | — | — | — | — | — | — | — | — | — |
DSC2 | c.907G>Ab | V303M | 0 | 2 | 4298 | 0 | 0 | 2203 | 0 | 2 | 6501 | No/NA | Benign |
DSG2 | c.1003A>G | T335A | 0 | 5 | 4094 | 0 | 0 | 1863 | 0 | 5 | 5957 | No/NA | Probably damaging |
DSP | c.5498A>Tb | E1833V | 0 | 112 | 4188 | 0 | 9 | 2194 | 0 | 121 | 6382 | Yes/NA | Probably damaging |
| Â | c.5513G>A | R1838H | 0 | 3 | 4297 | 0 | 0 | 2203 | 0 | 3 | 6500 | No/NA | Probably damaging |
| Â | c.6881C>G | A2294G | 0 | 3 | 4297 | 0 | 0 | 2203 | 0 | 3 | 6500 | No/NA | Probably damaging |
| Â | c.7123G>C | G2375R | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | No/NA | Probably damaging |
EYA4 | — | — | — | — | — | — | — | — | — | — | — | — | — |
FKTN | — | — | — | — | — | — | — | — | — | — | — | — | — |
FLT1 | c.162G>C | R54S | 0 | 5 | 4295 | 0 | 1 | 2202 | 0 | 6 | 6497 | No/NA | Probably damaging |
FOXD4 | — | — | — | — | — | — | — | — | — | — | — | — | — |
GATAD1 | — | — | — | — | — | — | — | — | — | — | — | — | — |
HSPB7 | — | — | — | — | — | — | — | — | — | — | — | — | — |
ILK | — | — | — | — | — | — | — | — | — | — | — | — | — |
LAMA2 | — | — | — | — | — | — | — | — | — | — | — | — | — |
LAMA4 | c.3217C>T | p.R1073X | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | No/Yes | Unknown |
LDB3 | c.349G>A | D117N | 0 | 33 | 4122 | 0 | 51 | 1994 | 0 | 84 | 6116 | NA/Yes | Benign |
| Â | c.566C>T | S189L | 0 | 2 | 4298 | 0 | 0 | 2203 | 0 | 2 | 6501 | Yes/Yes | Benign |
| Â | c.1049C>T | T350I | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | NA/NA | Possibly damaging |
| Â | c.1051A>G | T351A | 0 | 5 | 4295 | 0 | 0 | 2203 | 0 | 5 | 6498 | NA/NA | Benign |
| Â | c.2092G>Ab | A698T | 0 | 6 | 4294 | 0 | 0 | 2203 | 0 | 6 | 6497 | NA/NA | Probably damaging |
LMNA | c.565C>T | R189W | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | No/NA | Possibly damaging |
| Â | c.1303C>T | R435C | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | NA/NA | Probably damaging |
MURC | c.384C>G | N128K | 0 | 0 | 4299 | 0 | 5 | 2198 | 0 | 5 | 6497 | Yes/Yes | Probably damaging |
| Â | c.458T>C | L153P | 0 | 0 | 4300 | 0 | 1 | 2202 | 0 | 1 | 6502 | No/Yes | Probably damaging |
| Â | c.971C>Tb | P324L | 0 | 1 | 4299 | 0 | 5 | 2198 | 0 | 6 | 6497 | NA/Yes | Benign |
MYBPC3 | c.961G>A | V321M | 0 | 4 | 4246 | 0 | 1 | 2157 | 0 | 5 | 6403 | NA/NA | Probably damaging |
| Â | c.977G>Ab | R326Q | 0 | 32 | 4233 | 0 | 0 | 2161 | 0 | 32 | 6394 | NA/NA | Possibly damaging |
| Â | c.1814A>Gb | D605G | 0 | 1 | 4171 | 0 | 0 | 2008 | 0 | 1 | 6179 | NA/NA | Possibly damaging |
MYH6 | c.824T>Ab | I275N | 0 | 3 | 4297 | 0 | 0 | 2203 | 0 | 3 | 6500 | NA/NA | Benign |
| Â | c.1702C>Tb | R568C | 0 | 1 | 4299 | 0 | 1 | 2202 | 0 | 2 | 6501 | NA/NA | Probably damaging |
| Â | c.3010G>T | A1004S | 0 | 11 | 4289 | 0 | 1 | 2202 | 0 | 12 | 6491 | No/NA | Benign |
| Â | c.4318G>C | A1440P | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | NA/NA | Possibly damaging |
| Â | c.4505G>Ab | R1502Q | 0 | 3 | 4297 | 0 | 0 | 2203 | 0 | 3 | 6500 | NA/NA | Probably damaging |
MYH7 | c.2890G>Cb | V964L | 0 | 6 | 4294 | 0 | 0 | 2203 | 0 | 6 | 6497 | NA/NA | Probably damaging |
| Â | c.3286G>Tb | D1096Y | 0 | 2 | 4298 | 0 | 0 | 2203 | 0 | 2 | 6501 | NA/NA | Probably damaging |
| Â | c.4985G>A | R1662H | 0 | 0 | 4300 | 0 | 1 | 2202 | 0 | 1 | 6502 | NA/NA | Benign |
| Â | c.5494C>T | R1832C | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | No/NA | Probably damaging |
| Â | c.5588G>Ab | R1863Q | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | NA/NA | Possibly damaging |
MYPN | c.59A>G | Y20C | 0 | 10 | 4290 | 0 | 2 | 2201 | 0 | 12 | 6491 | NA/Yes | Probably damaging |
| Â | c.3335C>T | P1112L | 0 | 21 | 4279 | 0 | 6 | 2197 | 0 | 27 | 6476 | No/Yes | Probably damaging |
| Â | c.3583G>A | V1195M | 0 | 0 | 4300 | 0 | 4 | 2199 | 0 | 4 | 6499 | No/Yes | Probably damaging |
NEBL | c.180G>C | K60N | 0 | 61 | 4236 | 0 | 6 | 2196 | 0 | 67 | 6432 | NA/Yes | Probably damaging |
| Â | c.604G>A | G202R | 0 | 19 | 4281 | 0 | 4 | 2199 | 0 | 23 | 6480 | NA/Yes | Benign |
| Â | c.1775C>A | A592E | 0 | 1 | 4298 | 0 | 16 | 2187 | 0 | 17 | 6485 | NA/Yes | Benign |
NEXN | c.1955A>G | Y652C | 0 | 1 | 4086 | 0 | 0 | 1843 | 0 | 1 | 5929 | NA/Yes | Probably damaging |
PKP2 | c.184C>A | Q62K | 0 | 3 | 4188 | 0 | 0 | 2110 | 0 | 3 | 6298 | NA/NA | Benign |
| Â | c.419C>T | S140F | 0 | 25 | 4275 | 0 | 1 | 2202 | 0 | 26 | 6477 | NA/NA | Benign |
| Â | c.505A>G | S169G | 0 | 16 | 4281 | 0 | 5 | 2198 | 0 | 21 | 6479 | NA/NA | Benign |
| Â | c.1759G>A | V587I | 0 | 40 | 4260 | 0 | 2 | 2201 | 0 | 42 | 6461 | No/NA | Possibly damaging |
PLN | — | — | — | — | — | — | — | — | — | — | — | — | — |
POLG | c.2207A>G | N736S | 0 | 2 | 4297 | 0 | 5 | 2195 | 0 | 7 | 6492 | NA/NA | Possibly damaging |
PSEN1 | — | — | — | — | — | — | — | — | — | — | — | — | — |
RBM20 | c.1364C>T | S455L | 0 | 33 | 1558 | 0 | 0 | 692 | 0 | 33 | 2250 | NA/NA | Benign |
| Â | c.2147G>A | R716Q | 0 | 1 | 1590 | 0 | 0 | 692 | 0 | 1 | 2282 | Yes/NA | Possibly damaging |
SCN5A | c.647C>Tb | S216L | 0 | 11 | 4205 | 0 | 1 | 2044 | 0 | 12 | 6249 | NA/Yes | Probably damaging |
| Â | c.1336G>A | E446K | 0 | 1 | 4188 | 0 | 0 | 2050 | 0 | 1 | 6238 | No/NA | Probably damaging |
| Â | c.3835G>A | V1279I | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | No/NA | Possibly damaging |
| Â | c.6013C>Gb | P2005A | 0 | 13 | 4169 | 0 | 1 | 2005 | 0 | 14 | 6174 | NA/NA | Benign |
SGCD | — | — | — | — | — | — | — | — | — | — | — | — | — |
SYNE1 | — | — | — | — | — | — | — | — | — | — | — | — | — |
SYNM | — | — | — | — | — | — | — | — | — | — | — | — | — |
TCAP | c.260G>A | R87Q | 0 | 1 | 4290 | 0 | 1 | 2194 | 0 | 2 | 6484 | NA/Yes | Probably damaging |
TCF21 | c.65G>Tb | G22V | 0 | 17 | 4283 | 84 | 598 | 1521 | 84 | 615 | 5804 | NA/NA | Benign |
TMPO | c.2068C>T | R690C | 0 | 4 | 4295 | 0 | 4 | 2196 | 0 | 8 | 6491 | No/Yes | Probably damaging |
TNNC1 | — | — | — | — | — | — | — | — | — | — | — | — | — |
TNNI3 | — | — | — | — | — | — | — | — | — | — | — | — | — |
TTN | c.96206G>A | R32069Q | 0 | 0 | 4115 | 0 | 3 | 1920 | 0 | 3 | 6035 | NA/NA | Probably damaging |
TNNT2 | c.83C>Tb | A28V | 0 | 4 | 4296 | 0 | 0 | 2203 | 0 | 4 | 6499 | NA/NA | Benign |
TPM1 | — | — | — | — | — | — | — | — | — | — | — | — | — |
TXNRD2 | — | — | — | — | — | — | — | — | — | — | — | — | — |
VCL | c.2923C>T | R975W | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | Yes/Yes | Probably damaging |
| Â | c.3373C>T | R1125C | 0 | 1 | 4299 | 0 | 0 | 2203 | 0 | 1 | 6502 | NA/NA | Benign |
VPS13A | c.9403C>T | R3135X | 0 | 0 | 4293 | 0 | 1 | 2197 | 0 | 1 | 6490 | NA/NA | Unknown |
