Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_067874 | Disease | p.ALA766ASP | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013387 | Disease | p.ALA1303PRO | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013372 | Disease | p.ALA455PRO | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067880 | Disease | p.ALA820PRO | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067894 | Disease | p.ALA1139THR | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067841 | Polymorphism | p.ALA78THR | N/A |
Swiss-Prot | VAR_067884 | Disease | p.ALA950THR | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067844 | Polymorphism | p.ALA158VAL | N/A |
Swiss-Prot | VAR_067861 | Disease | p.ALA594VAL | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067890 | Disease | p.ARG1114CYS | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067896 | Disease | p.ARG1221CYS | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013390 | Disease | p.ARG1339CYS | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067909 | Disease | p.ARG1459CYS | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067862 | Disease | p.ARG600CYS | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_011492 | Disease | p.ARG1138GLN | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067895 | Disease | p.ARG1164GLN | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_011494 | Polymorphism | p.ARG1268GLN | N/A |
Swiss-Prot | VAR_013388 | Disease | p.ARG1314GLN | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013374 | Disease | p.ARG518GLN | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013378 | Disease | p.ARG765GLN | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067876 | Disease | p.ARG807GLN | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013367 | Polymorphism | p.ARG265GLY | N/A |
Swiss-Prot | VAR_067850 | Disease | p.ARG391GLY | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067897 | Disease | p.ARG1221HIS | Arterial calcification of infancy, generalized, 2 (GACI2) |
Swiss-Prot | VAR_067904 | Disease | p.ARG1339HIS | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067903 | Disease | p.ARG1339LEU | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067868 | Polymorphism | p.ARG724LEU | N/A |
Swiss-Prot | VAR_067867 | Polymorphism | p.ARG724LYS | N/A |
Swiss-Prot | VAR_011491 | Disease | p.ARG1114PRO | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013381 | Disease | p.ARG1138PRO | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067881 | Disease | p.ARG881SER | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067889 | Polymorphism | p.ARG1064TRP | N/A |
Swiss-Prot | VAR_011493 | Disease | p.ARG1138TRP | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067899 | Disease | p.ARG1235TRP | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_011495 | Disease | p.ARG1314TRP | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067906 | Disease | p.ARG1357TRP | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067849 | Disease | p.ARG382TRP | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013365 | Polymorphism | p.ARG64TRP | N/A |
Swiss-Prot | VAR_067873 | Disease | p.ARG760TRP | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067877 | Disease | p.ARG807TRP | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067848 | Disease | p.ASN370ASP | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013371 | Disease | p.ASN411LYS | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013373 | Polymorphism | p.ASN497LYS | N/A |
Swiss-Prot | VAR_013393 | Disease | p.ASP1361ASN | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067875 | Disease | p.ASP777ASN | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067888 | Disease | p.ASP1056GLU | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067900 | Disease | p.ASP1238HIS | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067854 | Disease | p.CYS440GLY | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013391 | Disease | p.GLN1347HIS | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067908 | Disease | p.GLN1406LYS | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067865 | Disease | p.GLN698PRO | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067866 | Disease | p.GLU699ASP | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067842 | Polymorphism | p.GLU125LYS | N/A |
Swiss-Prot | VAR_067907 | Disease | p.GLU1400LYS | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067893 | Disease | p.GLY1133ALA | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013386 | Disease | p.GLY1302ARG | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013392 | Disease | p.GLY1354ARG | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013366 | Polymorphism | p.GLY207ARG | N/A |
Swiss-Prot | VAR_067872 | Disease | p.GLY755ARG | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067885 | Disease | p.GLY992ARG | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013382 | Disease | p.GLY1203ASP | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013364 | Polymorphism | p.GLY61ASP | N/A |
Swiss-Prot | VAR_067863 | Disease | p.GLY663CYS | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067843 | Disease | p.GLY129GLU | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013389 | Disease | p.GLY1321SER | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013376 | Polymorphism | p.HIS632GLN | N/A |
Swiss-Prot | VAR_013394 | Disease | p.ILE1424THR | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013369 | Polymorphism | p.ILE319VAL | N/A |
Swiss-Prot | VAR_067870 | Polymorphism | p.ILE742VAL | N/A |
Swiss-Prot | VAR_067846 | Disease | p.LEU355ARG | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067902 | Disease | p.LEU1335GLN | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067855 | Disease | p.LEU463HIS | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067856 | Disease | p.LEU495HIS | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013379 | Polymorphism | p.LEU953HIS | N/A |
Swiss-Prot | VAR_060988 | Polymorphism | p.LEU1097ILE | N/A |
Swiss-Prot | VAR_067898 | Disease | p.LEU1226ILE | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067883 | Polymorphism | p.LEU946ILE | N/A |
Swiss-Prot | VAR_067901 | Disease | p.LEU1335PRO | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013377 | Disease | p.LEU673PRO | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067864 | Disease | p.LEU677PRO | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067869 | Disease | p.LEU726PRO | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067851 | Disease | p.LYS392ASN | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013368 | Polymorphism | p.LYS281GLU | N/A |
Swiss-Prot | VAR_067871 | Disease | p.MET751LYS | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_059108 | Polymorphism | p.MET848VAL | N/A |
Swiss-Prot | VAR_067859 | Disease | p.PHE551SER | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013375 | Disease | p.PHE568SER | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067905 | Disease | p.PRO1346SER | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067845 | Disease | p.SER317ARG | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067852 | Disease | p.SER398GLY | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067891 | Disease | p.SER1121LEU | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067860 | Disease | p.SER590PHE | Arterial calcification of infancy, generalized, 2 (GACI2) |
Swiss-Prot | VAR_067858 | Disease | p.SER535PRO | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013380 | Disease | p.SER1121TRP | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013370 | Disease | p.THR364ARG | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013385 | Disease | p.THR1301ILE | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067882 | Disease | p.THR944ILE | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067892 | Disease | p.THR1130MET | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_067879 | Disease | p.THR811MET | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013383 | Polymorphism | p.TRP1241CYS | N/A |
Swiss-Prot | VAR_011490 | Polymorphism | p.VAL614ALA | N/A |
Swiss-Prot | VAR_055477 | Polymorphism | p.VAL665ALA | N/A |
Swiss-Prot | VAR_067857 | Polymorphism | p.VAL514ILE | N/A |
Swiss-Prot | VAR_067853 | Polymorphism | p.VAL417MET | N/A |
Swiss-Prot | VAR_067878 | Disease | p.VAL810MET | Pseudoxanthoma elasticum (PXE) |
Swiss-Prot | VAR_013384 | Disease | p.VAL1298PHE | Pseudoxanthoma elasticum (PXE) |