Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_010447 | Disease | p.ALA247ASP | Epidermolysis bullosa simplex, Koebner type (K-EBS) |
Swiss-Prot | VAR_010449 | Disease | p.ALA274ASP | Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) |
Swiss-Prot | VAR_023725 | Disease | p.ALA413THR | Epidermolysis bullosa simplex, Koebner type (K-EBS) |
Swiss-Prot | VAR_010437 | Polymorphism | p.ALA94THR | N/A |
Swiss-Prot | VAR_003837 | Disease | p.ARG125CYS | Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) |
Swiss-Prot | VAR_031636 | Disease | p.ARG148CYS | Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) |
Swiss-Prot | VAR_010451 | Disease | p.ARG388CYS | Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) |
Swiss-Prot | VAR_023721 | Disease | p.ARG125GLY | Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) |
Swiss-Prot | VAR_003838 | Disease | p.ARG125HIS | Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) |
Swiss-Prot | VAR_031637 | Disease | p.ARG388HIS | Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) |
Swiss-Prot | VAR_031635 | Disease | p.ARG134PRO | Epidermolysis bullosa simplex, Koebner type (K-EBS) |
Swiss-Prot | VAR_027718 | Disease | p.ARG211PRO | Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) |
Swiss-Prot | VAR_031639 | Disease | p.ARG416PRO | Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) |
Swiss-Prot | VAR_027721 | Disease | p.ARG417PRO | Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) |
Swiss-Prot | VAR_010444 | Disease | p.ARG125SER | Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) |
Swiss-Prot | VAR_023720 | Disease | p.ASN123LYS | Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) |
Swiss-Prot | VAR_010443 | Disease | p.ASN123SER | Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) |
Swiss-Prot | VAR_010448 | Disease | p.ASP273GLY | Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) |
Swiss-Prot | VAR_055347 | Polymorphism | p.CYS63TYR | N/A |
Swiss-Prot | VAR_010441 | Disease | p.GLN120ARG | Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) |
Swiss-Prot | VAR_003839 | Disease | p.GLU144ALA | Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1) |
Swiss-Prot | VAR_049784 | Polymorphism | p.GLU215LYS | N/A |
Swiss-Prot | VAR_010452 | Disease | p.GLU422LYS | Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) |
Swiss-Prot | VAR_010450 | Disease | p.ILE377ASN | Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) |
Swiss-Prot | VAR_003845 | Disease | p.LEU419GLN | Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) |
Swiss-Prot | VAR_023724 | Disease | p.LEU408MET | Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) |
Swiss-Prot | VAR_010442 | Disease | p.LEU122PHE | Epidermolysis bullosa simplex, Koebner type (K-EBS) |
Swiss-Prot | VAR_023722 | Disease | p.LEU130PRO | Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) |
Swiss-Prot | VAR_010446 | Disease | p.LEU143PRO | Epidermolysis bullosa simplex, Koebner type (K-EBS) |
Swiss-Prot | VAR_003843 | Disease | p.LEU384PRO | Epidermolysis bullosa simplex, Koebner type (K-EBS) |
Swiss-Prot | VAR_010438 | Disease | p.LYS116ASN | Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) |
Swiss-Prot | VAR_003841 | Disease | p.MET272ARG | Epidermolysis bullosa simplex, Koebner type (K-EBS) |
Swiss-Prot | VAR_010439 | Polymorphism | p.MET119ILE | N/A |
Swiss-Prot | VAR_010440 | Disease | p.MET119THR | Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) |
Swiss-Prot | VAR_027719 | Disease | p.MET272THR | Epidermolysis bullosa simplex, Koebner type (K-EBS) |
Swiss-Prot | VAR_023719 | Disease | p.MET119VAL | Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) |
Swiss-Prot | VAR_010445 | Disease | p.TYR129ASP | Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) |
Swiss-Prot | VAR_031638 | Disease | p.TYR415CYS | Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) |
Swiss-Prot | VAR_003844 | Disease | p.TYR415HIS | Epidermolysis bullosa simplex, Koebner type (K-EBS) |
Swiss-Prot | VAR_033496 | Polymorphism | p.VAL133ALA | N/A |
Swiss-Prot | VAR_023723 | Disease | p.VAL133LEU | Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) |
Swiss-Prot | VAR_003840 | Disease | p.VAL270MET | Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) |