Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_067262 | Disease | p.ALA1263GLU | Cardiomyopathy, dilated 1S (CMD1S) |
Swiss-Prot | VAR_029433 | Disease | p.ALA430GLU | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042801 | Disease | p.ALA742GLU | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042813 | Disease | p.ALA901GLY | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_022370 | Disease | p.ALA1663PRO | Myopathy, distal, 1 (MPD1) |
Swiss-Prot | VAR_017753 | Polymorphism | p.ALA1124SER | N/A |
Swiss-Prot | VAR_019868 | Disease | p.ALA1379THR | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042827 | Disease | p.ALA1454THR | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_019871 | Disease | p.ALA1777THR | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042767 | Disease | p.ALA196THR | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_017746 | Disease | p.ALA223THR | Cardiomyopathy, dilated 1S (CMD1S) |
Swiss-Prot | VAR_019849 | Disease | p.ALA355THR | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004591 | Disease | p.ALA797THR | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004566 | Disease | p.ALA26VAL | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042777 | Disease | p.ALA385VAL | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_019850 | Disease | p.ALA428VAL | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042794 | Disease | p.ALA550VAL | Cardiomyopathy, dilated 1S (CMD1S) |
Swiss-Prot | VAR_017750 | Disease | p.ALA728VAL | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042829 | Polymorphism | p.ARG1475CYS | N/A |
Swiss-Prot | VAR_042833 | Disease | p.ARG1634CYS | Cardiomyopathy, dilated 1S (CMD1S) |
Swiss-Prot | VAR_004576 | Disease | p.ARG453CYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042798 | Disease | p.ARG663CYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_019857 | Disease | p.ARG671CYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_020809 | Disease | p.ARG694CYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004585 | Disease | p.ARG723CYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_045927 | Disease | p.ARG787CYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_039563 | Disease | p.ARG858CYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_020815 | Disease | p.ARG869CYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_020816 | Disease | p.ARG870CYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004568 | Disease | p.ARG143GLN | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004569 | Disease | p.ARG249GLN | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004574 | Disease | p.ARG403GLN | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_017749 | Disease | p.ARG719GLN | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042763 | Disease | p.ARG143GLY | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_020812 | Disease | p.ARG723GLY | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_019863 | Disease | p.ARG869GLY | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_019847 | Disease | p.ARG204HIS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042788 | Disease | p.ARG453HIS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_019855 | Disease | p.ARG663HIS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_029437 | Disease | p.ARG694HIS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_019861 | Disease | p.ARG787HIS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042809 | Disease | p.ARG858HIS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042810 | Disease | p.ARG869HIS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004592 | Disease | p.ARG870HIS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004573 | Disease | p.ARG403LEU | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_020811 | Disease | p.ARG712LEU | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_022369 | Disease | p.ARG1500PRO | Myopathy, distal, 1 (MPD1) |
Swiss-Prot | VAR_042822 | Disease | p.ARG1193SER | Cardiomyopathy, dilated 1S (CMD1S) |
Swiss-Prot | VAR_019856 | Disease | p.ARG663SER | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_020800 | Disease | p.ARG190THR | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_019869 | Disease | p.ARG1382TRP | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042825 | Disease | p.ARG1420TRP | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_029431 | Disease | p.ARG143TRP | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042834 | Disease | p.ARG1712TRP | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_017754 | Disease | p.ARG1845TRP | Scapuloperoneal myopathy MYH7-related (SPMM) |
Swiss-Prot | VAR_004575 | Disease | p.ARG403TRP | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004584 | Disease | p.ARG719TRP | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042823 | Disease | p.ASN1327LYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_020799 | Disease | p.ASN187LYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_019848 | Disease | p.ASN232SER | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_019852 | Disease | p.ASN479SER | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004580 | Disease | p.ASN602SER | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_020810 | Disease | p.ASN696SER | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_029430 | Polymorphism | p.ASP3ALA | N/A |
Swiss-Prot | VAR_029444 | Disease | p.ASP928ASN | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_017745 | Polymorphism | p.ASP107GLU | N/A |
Swiss-Prot | VAR_019860 | Disease | p.ASP778GLU | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004590 | Disease | p.ASP778GLY | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042814 | Disease | p.ASP906GLY | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042818 | Disease | p.ASP953HIS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004579 | Disease | p.ASP587VAL | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042804 | Disease | p.ASP778VAL | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_029442 | Disease | p.CYS905PHE | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_020807 | Disease | p.GLN595ARG | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_029438 | Disease | p.GLN734GLU | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042811 | Disease | p.GLN882GLU | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_020801 | Disease | p.GLN222LYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042800 | Disease | p.GLN734PRO | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042789 | Disease | p.GLU500ALA | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_014199 | Disease | p.GLU743ASP | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_019866 | Disease | p.GLU1218GLN | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_029434 | Polymorphism | p.GLU466GLN | N/A |
Swiss-Prot | VAR_020814 | Disease | p.GLU846GLN | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_029443 | Disease | p.GLU924GLN | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042774 | Disease | p.GLU328GLY | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042812 | Disease | p.GLU894GLY | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042824 | Disease | p.GLU1356LYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042826 | Disease | p.GLU1426LYS | Cardiomyopathy, dilated 1S (CMD1S) |
Swiss-Prot | VAR_020820 | Disease | p.GLU1555LYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042836 | Disease | p.GLU1753LYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042837 | Disease | p.GLU1768LYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042839 | Disease | p.GLU1883LYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_019853 | Disease | p.GLU483LYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_020806 | Disease | p.GLU499LYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042815 | Disease | p.GLU921LYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004594 | Disease | p.GLU924LYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042816 | Disease | p.GLU927LYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004595 | Disease | p.GLU930LYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042817 | Disease | p.GLU931LYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004597 | Disease | p.GLU935LYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004598 | Disease | p.GLU949LYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042803 | Disease | p.GLU774VAL | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042782 | Disease | p.GLY425ARG | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042795 | Disease | p.GLY571ARG | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004578 | Disease | p.GLY584ARG | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004583 | Disease | p.GLY716ARG | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004588 | Disease | p.GLY741ARG | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_019859 | Disease | p.GLY768ARG | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042820 | Disease | p.GLY1057ASP | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004570 | Disease | p.GLY256GLU | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_019858 | Disease | p.GLY733GLU | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042807 | Disease | p.GLY823GLU | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042821 | Disease | p.GLY1057SER | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_029436 | Disease | p.GLY584SER | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004589 | Disease | p.GLY741TRP | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042780 | Disease | p.GLY407VAL | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042796 | Disease | p.HIS576ARG | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042840 | Disease | p.HIS1901LEU | Myopathy, myosin storage (MYOMS) |
Swiss-Prot | VAR_042772 | Disease | p.ILE263MET | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004587 | Disease | p.ILE736MET | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042791 | Disease | p.ILE511PHE | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042768 | Disease | p.ILE201THR | Cardiomyopathy, dilated 1S (CMD1S) |
Swiss-Prot | VAR_004571 | Disease | p.ILE263THR | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_019851 | Disease | p.ILE443THR | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042792 | Disease | p.ILE511THR | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_029439 | Disease | p.ILE736THR | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_019865 | Disease | p.LEU1135ARG | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_045928 | Disease | p.LEU1414MET | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_029435 | Disease | p.LEU517MET | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_029440 | Disease | p.LEU796PHE | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_022371 | Disease | p.LEU1706PRO | Myopathy, distal, 1 (MPD1) |
Swiss-Prot | VAR_067263 | Disease | p.LEU1297VAL | Cardiomyopathy, dilated 1S (CMD1S) |
Swiss-Prot | VAR_042771 | Disease | p.LEU227VAL | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_020804 | Disease | p.LEU390VAL | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_020808 | Disease | p.LEU601VAL | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004593 | Disease | p.LEU908VAL | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042828 | Disease | p.LYS1459ASN | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042764 | Disease | p.LYS146ASN | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042841 | Polymorphism | p.LYS1919ASN | N/A |
dbSNP | rs735711 | Polymorphism | p.LYS365ASN | N/A |
Swiss-Prot | VAR_042776 | Disease | p.LYS383ASN | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004582 | Disease | p.LYS615ASN | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042769 | Disease | p.LYS207GLN | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042797 | Disease | p.LYS615GLN | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042775 | Disease | p.LYS351GLU | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042786 | Disease | p.LYS450GLU | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042787 | Disease | p.LYS450THR | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042793 | Disease | p.MET515ARG | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_019854 | Disease | p.MET659ILE | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042805 | Disease | p.MET822LEU | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_020817 | Disease | p.MET877LYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004572 | Disease | p.MET349THR | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042783 | Disease | p.MET435THR | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042806 | Disease | p.MET822THR | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_019862 | Disease | p.MET852THR | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_039562 | Disease | p.MET515VAL | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042773 | Disease | p.PHE312CYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004577 | Disease | p.PHE513CYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_020802 | Disease | p.PHE244LEU | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_017751 | Disease | p.PHE764LEU | Cardiomyopathy, dilated 1S (CMD1S) |
Swiss-Prot | VAR_042770 | Disease | p.PRO211LEU | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004586 | Disease | p.PRO731LEU | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_020813 | Disease | p.SER782ASN | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_020819 | Polymorphism | p.SER1491CYS | N/A |
Swiss-Prot | VAR_042831 | Polymorphism | p.SER1519CYS | N/A |
Swiss-Prot | VAR_020821 | Disease | p.SER1776GLY | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042765 | Disease | p.SER148ILE | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_017748 | Disease | p.SER642LEU | Cardiomyopathy, dilated 1S (CMD1S) |
Swiss-Prot | VAR_017747 | Disease | p.SER532PRO | Cardiomyopathy, dilated 1S (CMD1S) |
Swiss-Prot | VAR_042819 | Disease | p.THR1019ASN | Cardiomyopathy, dilated 1S (CMD1S) |
Swiss-Prot | VAR_019846 | Disease | p.THR188ASN | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042781 | Disease | p.THR412ASN | Cardiomyopathy, dilated 1S (CMD1S) |
Swiss-Prot | VAR_020797 | Disease | p.THR124ILE | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_019867 | Disease | p.THR1377MET | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042838 | Disease | p.THR1854MET | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042842 | Disease | p.THR1929MET | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042785 | Disease | p.THR441MET | Myopathy, distal, 1 (MPD1) |
Swiss-Prot | VAR_042830 | Disease | p.THR1513SER | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_020798 | Disease | p.TYR162CYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042790 | Disease | p.TYR501CYS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042762 | Disease | p.TYR115HIS | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_067260 | Disease | p.VAL1044ALA | Cardiomyopathy, dilated 1S (CMD1S) |
Swiss-Prot | VAR_042799 | Disease | p.VAL698ALA | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042802 | Disease | p.VAL763GLY | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_029432 | Disease | p.VAL411ILE | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004567 | Disease | p.VAL59ILE | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_029441 | Disease | p.VAL824ILE | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042766 | Disease | p.VAL186LEU | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042778 | Disease | p.VAL404LEU | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_019870 | Polymorphism | p.VAL1692MET | N/A |
Swiss-Prot | VAR_020803 | Disease | p.VAL320MET | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_019845 | Disease | p.VAL39MET | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042779 | Disease | p.VAL404MET | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_020805 | Disease | p.VAL406MET | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_042784 | Disease | p.VAL440MET | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_004581 | Disease | p.VAL606MET | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
Swiss-Prot | VAR_045926 | Disease | p.VAL763MET | Cardiomyopathy, familial hypertrophic 1 (CMH1) |
OMIM | 160760.0042 | Disease | p.ALA1766THR | LEFT VENTRICULAR NONCOMPACTION 5 |
OMIM | 160760.0026 | Disease | p.ALA223THR | CARDIOMYOPATHY, DILATED, 1S |
OMIM | 160760.0025 | Disease | p.ALA728VAL | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0003 | Disease | p.ARG453CYS | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0008 | Disease | p.ARG723CYS | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0002 | Disease | p.ARG249GLN | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0001 | Disease | p.ARG403GLN | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0021 | Disease | p.ARG719GLN | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0040 | Disease | p.ARG243HIS | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1||LEFT VENTRICULAR NONCOMPACTION 5, INCLUDED |
OMIM | 160760.0034 | Disease | p.ARG870HIS | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0014 | Disease | p.ARG403LEU | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0029 | Disease | p.ARG1500PRO | LAING DISTAL MYOPATHY |
OMIM | 160760.0043 | Disease | p.ARG453SER | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0032 | Disease | p.ARG1712TRP | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0028 | Disease | p.ARG1845TRP | MYOPATHY, MYOSIN STORAGE||SCAPULOPERONEAL MYOPATHY, MYH7-RELATED, INCLUDED |
OMIM | 160760.0015 | Disease | p.ARG403TRP | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0017 | Disease | p.ARG719TRP | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0046 | Disease | p.ASN1918LYS | LEFT VENTRICULAR NONCOMPACTION 5 |
OMIM | 160760.0013 | Disease | p.ASP778GLY | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0039 | Disease | p.ASP906GLY | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0038 | Disease | p.GLU497ASP | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0024 | Disease | p.GLU743ASP | CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC |
OMIM | 160760.0035 | Disease | p.GLU1883LYS | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1||MYOPATHY, MYOSIN STORAGE, INCLUDED |
OMIM | 160760.0033 | Disease | p.GLU483LYS | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0006 | Disease | p.GLU924LYS | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0019 | Disease | p.GLU935LYS | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0007 | Disease | p.GLU949LYS | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0004 | Disease | p.GLY584ARG | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0018 | Disease | p.GLY716ARG | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0011 | Disease | p.GLY741ARG | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0012 | Disease | p.GLY256GLU | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0031 | Disease | p.HIS1904LEU | MYOPATHY, MYOSIN STORAGE |
OMIM | 160760.0037 | Disease | p.LEU1793PRO | MYOPATHY, MYOSIN STORAGE||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1, INCLUDED;;||LEFT VENTRICULAR NONCOMPACTION 5, INCLUD |
OMIM | 160760.0010 | Disease | p.LEU908VAL | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0020 | Disease | p.MET349THR | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0016 | Disease | p.PHE513CYS | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
OMIM | 160760.0023 | Disease | p.PHE764LEU | CARDIOMYOPATHY, DILATED, 1S |
OMIM | 160760.0027 | Disease | p.SER642LEU | CARDIOMYOPATHY, DILATED, 1S |
OMIM | 160760.0022 | Disease | p.SER532PRO | CARDIOMYOPATHY, DILATED, 1S |
OMIM | 160760.0036 | Disease | p.THR441MET | LAING DISTAL MYOPATHY |
OMIM | 160760.0045 | Disease | p.TYR283ASP | LEFT VENTRICULAR NONCOMPACTION 5 |
OMIM | 160760.0005 | Disease | p.VAL606MET | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |