Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_007015 | Disease | p.ALA456GLU | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_007016 | Disease | p.ALA458THR | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_007017 | Disease | p.ALA458VAL | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_007018 | Disease | p.ALA465VAL | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_007019 | Disease | p.ARG466CYS | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_007020 | Disease | p.ARG466HIS | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_007021 | Disease | p.ARG466LEU | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_007022 | Disease | p.ARG466SER | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_027374 | Polymorphism | p.ASP39GLU | N/A |
Swiss-Prot | VAR_068844 | Disease | p.ASP497GLY | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_027381 | Disease | p.ASP408VAL | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_027379 | Disease | p.CYS130TYR | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_007025 | Polymorphism | p.GLN474GLU | N/A |
Swiss-Prot | VAR_068835 | Disease | p.GLY184ARG | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_027376 | Disease | p.GLY345ARG | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_007013 | Disease | p.GLY429ARG | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_027383 | Disease | p.GLY493GLU | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_068837 | Disease | p.ILE232LYS | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_007029 | Disease | p.LEU481ARG | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_068840 | Disease | p.LEU430GLN | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_068836 | Disease | p.LEU230PRO | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_068842 | Disease | p.LEU447PRO | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_007028 | Disease | p.LEU481PRO | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_068841 | Disease | p.MET441THR | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_007026 | Disease | p.PHE477SER | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_007030 | Disease | p.PRO489ARG | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_027384 | Disease | p.PRO498ARG | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_007031 | Disease | p.PRO498SER | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_068834 | Disease | p.SER170PHE | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_068832 | Disease | p.THR118ALA | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_027380 | Disease | p.THR394PRO | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_007023 | Disease | p.THR467PRO | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_011751 | Polymorphism | p.THR308SER | N/A |
Swiss-Prot | VAR_068839 | Disease | p.TRP299ARG | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_068833 | Disease | p.TYR154CYS | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_027375 | Polymorphism | p.VAL56ALA | N/A |
Swiss-Prot | VAR_007014 | Disease | p.VAL454GLU | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_027382 | Disease | p.VAL473GLU | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_068843 | Disease | p.VAL473GLY | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_007024 | Disease | p.VAL473MET | Hereditary angioedema (HAE) |
Swiss-Prot | VAR_007027 | Polymorphism | p.VAL480MET | N/A |