Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_042742 | Disease | p.ALA417SER | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
dbSNP | rs1052373 | Polymorphism | p.ALA1097THR | N/A |
Swiss-Prot | VAR_019900 | Disease | p.ALA1194THR | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_019901 | Disease | p.ALA1255THR | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_020573 | Polymorphism | p.ALA522THR | N/A |
Swiss-Prot | VAR_029417 | Disease | p.ALA833THR | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_019898 | Disease | p.ALA833VAL | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_020575 | Polymorphism | p.ARG1048CYS | N/A |
Swiss-Prot | VAR_070449 | Disease | p.ARG272CYS | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029410 | Disease | p.ARG733CYS | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029423 | Disease | p.ARG1002GLN | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_020569 | Polymorphism | p.ARG281GLN | N/A |
Swiss-Prot | VAR_019893 | Polymorphism | p.ARG326GLN | N/A |
Swiss-Prot | VAR_027880 | Disease | p.ARG495GLN | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_027881 | Disease | p.ARG502GLN | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029416 | Disease | p.ARG820GLN | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_045929 | Disease | p.ARG495GLY | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_042741 | Disease | p.ARG273HIS | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029399 | Disease | p.ARG458HIS | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_003918 | Disease | p.ARG654HIS | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029408 | Disease | p.ARG668HIS | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029413 | Disease | p.ARG810HIS | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029409 | Disease | p.ARG668PRO | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029418 | Disease | p.ARG834THR | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029424 | Polymorphism | p.ARG1002TRP | N/A |
Swiss-Prot | VAR_029397 | Disease | p.ARG282TRP | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_020570 | Polymorphism | p.ARG382TRP | N/A |
Swiss-Prot | VAR_019895 | Disease | p.ARG502TRP | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029419 | Disease | p.ARG834TRP | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_003919 | Disease | p.ASN755LYS | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029421 | Disease | p.ASN948THR | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029394 | Disease | p.ASP228ASN | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029406 | Disease | p.ASP605ASN | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029411 | Disease | p.ASP770ASN | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029405 | Disease | p.ASP604VAL | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029404 | Disease | p.CYS566ARG | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_070455 | Disease | p.CYS1264PHE | Cardiomyopathy, dilated 1MM (CMD1MM) |
Swiss-Prot | VAR_029422 | Disease | p.GLN998ARG | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_020574 | Disease | p.GLN998GLU | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_042744 | Disease | p.GLU759ASP | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_027879 | Disease | p.GLU451GLN | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_003917 | Disease | p.GLU542GLN | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_019890 | Disease | p.GLU258LYS | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_019892 | Disease | p.GLY279ALA | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_045931 | Disease | p.GLY1248ARG | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_042740 | Disease | p.GLY263ARG | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029400 | Disease | p.GLY490ARG | Left ventricular non-compaction 10 (LVNC10) |
Swiss-Prot | VAR_029390 | Disease | p.GLY5ARG | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029401 | Disease | p.GLY507ARG | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_019891 | Disease | p.GLY278GLU | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029398 | Polymorphism | p.GLY416SER | N/A |
Swiss-Prot | VAR_029402 | Disease | p.GLY523TRP | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_070451 | Disease | p.GLY490VAL | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_019889 | Disease | p.HIS257PRO | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029428 | Polymorphism | p.ILE1131THR | N/A |
Swiss-Prot | VAR_070450 | Disease | p.ILE336VAL | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_042743 | Disease | p.LEU669HIS | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029403 | Polymorphism | p.LEU545MET | N/A |
Swiss-Prot | VAR_019894 | Disease | p.LEU352PRO | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_020571 | Polymorphism | p.LEU383VAL | N/A |
Swiss-Prot | VAR_019897 | Disease | p.LYS811ARG | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029426 | Disease | p.PHE1113ILE | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029425 | Disease | p.PRO1003GLN | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029420 | Disease | p.PRO873HIS | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
dbSNP | rs11570076 | Polymorphism | p.PRO382LEU | N/A |
Swiss-Prot | VAR_029407 | Disease | p.PRO608LEU | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_070452 | Disease | p.PRO873LEU | Left ventricular non-compaction 10 (LVNC10) |
Swiss-Prot | VAR_029392 | Disease | p.PRO161SER | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
dbSNP | rs3729989 | Polymorphism | p.SER236GLY | N/A |
Swiss-Prot | VAR_029391 | Disease | p.THR59ALA | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_070454 | Disease | p.THR958ILE | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_045930 | Disease | p.THR1028SER | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_070453 | Disease | p.THR957SER | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029412 | Disease | p.TRP792ARG | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029395 | Disease | p.TYR237SER | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029427 | Disease | p.VAL1115ILE | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_020568 | Polymorphism | p.VAL189ILE | N/A |
Swiss-Prot | VAR_029396 | Disease | p.VAL256ILE | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
Swiss-Prot | VAR_029393 | Disease | p.VAL219LEU | Cardiomyopathy, familial hypertrophic 4 (CMH4) |
dbSNP | rs3729986 | Polymorphism | p.VAL158MET | N/A |
Swiss-Prot | VAR_019899 | Polymorphism | p.VAL896MET | N/A |
OMIM | 600958.0024 | Disease | p.ALA833THR | CARDIOMYOPATHY, DILATED, 1MM||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, INCLUDED |
OMIM | 600958.0015 | Disease | p.ARG820GLN | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 |
OMIM | 600958.0021 | Disease | p.ARG745GLY | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 |
OMIM | 600958.0023 | Disease | p.ARG943TER | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 |
OMIM | 600958.0013 | Disease | p.ASN948THR | CARDIOMYOPATHY, DILATED, 1MM |
OMIM | 600958.0025 | Disease | p.CYS1264PHE | CARDIOMYOPATHY, DILATED, 1MM |
OMIM | 600958.0006 | Disease | p.GLU542GLN | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 |
OMIM | 600958.0014 | Disease | p.GLU1096TER | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 |
OMIM | 600958.0026 | Disease | p.GLY490ARG | CARDIOMYOPATHY, DILATED, 1MM||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, INCLUDED;;||LEFT VENTRICULAR NONCOMPACTION 10, I |
OMIM | 600958.0029 | Disease | p.GLY490VAL | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 |
OMIM | 600958.0022 | Disease | p.PRO873HIS | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 |
OMIM | 600958.0027 | Disease | p.PRO873LEU | LEFT VENTRICULAR NONCOMPACTION 10 |
OMIM | 600958.0012 | Disease | p.THR59ALA | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 |
OMIM | 600958.0018 | Disease | p.VAL1125MET | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 |