Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_057026 | Polymorphism | p.ALA2178SER | N/A |
Swiss-Prot | VAR_005807 | Disease | p.ALA1461VAL | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_005795 | Disease | p.ARG1308CYS | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_005802 | Disease | p.ARG1374CYS | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_005801 | Disease | p.ARG1341GLN | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_005812 | Disease | p.ARG1597GLN | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_057027 | Polymorphism | p.ARG2185GLN | N/A |
Swiss-Prot | VAR_005789 | Disease | p.ARG854GLN | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_005811 | Disease | p.ARG1597GLY | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_005803 | Disease | p.ARG1374HIS | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_005805 | Polymorphism | p.ARG1399HIS | N/A |
Swiss-Prot | VAR_005794 | Disease | p.ARG1306TRP | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_005813 | Disease | p.ARG1597TRP | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_010242 | Disease | p.ARG273TRP | Von Willebrand disease 3 (VWD3) |
Swiss-Prot | VAR_005787 | Disease | p.ARG816TRP | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_005790 | Polymorphism | p.ASN857ASP | N/A |
Swiss-Prot | VAR_057023 | Polymorphism | p.ASN318LYS | N/A |
Swiss-Prot | VAR_005783 | Disease | p.ASN528SER | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_009144 | Disease | p.ASN2546TYR | Von Willebrand disease 3 (VWD3) |
Swiss-Prot | VAR_029656 | Polymorphism | p.ASP1472HIS | N/A |
Swiss-Prot | VAR_028446 | Disease | p.CYS1060ARG | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_064925 | Disease | p.CYS1149ARG | Von Willebrand disease 1 (VWD1) |
Swiss-Prot | VAR_005793 | Disease | p.CYS1272ARG | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_005822 | Disease | p.CYS2773ARG | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_067340 | Disease | p.CYS1272PHE | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_009143 | Disease | p.CYS2362PHE | Von Willebrand disease 3 (VWD3) |
Swiss-Prot | VAR_005821 | Disease | p.CYS2739TYR | Von Willebrand disease 3 (VWD3) |
Swiss-Prot | VAR_009141 | Disease | p.CYS788TYR | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_005788 | Polymorphism | p.GLN852ARG | N/A |
Swiss-Prot | VAR_005818 | Disease | p.GLU1638LYS | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_005815 | Disease | p.GLY1609ARG | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_057028 | Polymorphism | p.GLY2705ARG | N/A |
Swiss-Prot | VAR_005784 | Disease | p.GLY550ARG | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_005800 | Disease | p.GLY1324SER | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_024553 | Polymorphism | p.HIS484ARG | N/A |
Swiss-Prot | VAR_005792 | Disease | p.HIS1268ASP | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_005817 | Disease | p.ILE1628THR | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_005809 | Disease | p.LEU1540PRO | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_005806 | Disease | p.LEU1460VAL | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_057024 | Polymorphism | p.MET740ILE | N/A |
Swiss-Prot | VAR_005808 | Disease | p.PHE1514CYS | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_057025 | Polymorphism | p.PHE885SER | N/A |
Swiss-Prot | VAR_005791 | Disease | p.PRO1266LEU | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_005819 | Disease | p.PRO1648SER | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_009142 | Disease | p.PRO2063SER | Von Willebrand disease 3 (VWD3) |
Swiss-Prot | VAR_005816 | Disease | p.SER1613PRO | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_005804 | Polymorphism | p.THR1381ALA | N/A |
Swiss-Prot | VAR_005785 | Polymorphism | p.THR789ALA | N/A |
Swiss-Prot | VAR_005786 | Disease | p.THR791MET | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_005796 | Disease | p.TRP1313CYS | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_005782 | Disease | p.TRP377CYS | Von Willebrand disease 3 (VWD3) |
Swiss-Prot | VAR_036276 | Polymorphism | p.TYR1570CYS | N/A |
Swiss-Prot | VAR_005810 | Polymorphism | p.TYR1584CYS | N/A |
Swiss-Prot | VAR_005814 | Disease | p.VAL1607ASP | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_005820 | Disease | p.VAL1665GLU | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_060591 | Polymorphism | p.VAL471ILE | N/A |
Swiss-Prot | VAR_005797 | Disease | p.VAL1314LEU | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_005799 | Disease | p.VAL1318LEU | Von Willebrand disease 2 (VWD2) |
Swiss-Prot | VAR_014630 | Polymorphism | p.VAL1565LEU | N/A |
Swiss-Prot | VAR_005798 | Disease | p.VAL1316MET | Von Willebrand disease 2 (VWD2) |