Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_003997 | Polymorphism | p.ARG662CYS | N/A |
Swiss-Prot | VAR_003994 | Polymorphism | p.ARG169GLN | N/A |
Swiss-Prot | VAR_003999 | Disease | p.ARG240GLN | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_030479 | Disease | p.ARG242GLN | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_003996 | Polymorphism | p.ARG515GLN | N/A |
Swiss-Prot | VAR_030473 | Disease | p.ARG119TRP | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_004000 | Disease | p.ARG240TRP | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_030475 | Disease | p.ASP145ASN | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_069924 | Disease | p.ASP749HIS | Bleeding disorder, platelet-type 16 (BDPLT16) |
Swiss-Prot | VAR_003998 | Disease | p.ASP145TYR | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_030480 | Disease | p.ASP243VAL | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_010671 | Disease | p.CYS568ARG | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_030485 | Disease | p.CYS586ARG | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_030486 | Disease | p.CYS601ARG | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_004003 | Disease | p.CYS586PHE | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_004002 | Disease | p.CYS400TYR | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_030484 | Disease | p.CYS532TYR | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_069920 | Disease | p.CYS64TYR | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_069922 | Disease | p.GLY247ASP | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_004004 | Disease | p.GLY598SER | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_010672 | Disease | p.GLY605SER | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_004001 | Disease | p.HIS306PRO | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_030483 | Disease | p.ILE330ASN | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_049633 | Polymorphism | p.LEU66ARG | N/A |
Swiss-Prot | VAR_030478 | Disease | p.LEU222PRO | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_030481 | Disease | p.LEU288PRO | Glanzmann thrombasthenia (GT) |
dbSNP | rs5918 | Polymorphism | p.LEU59PRO | N/A |
Swiss-Prot | VAR_010649 | Disease | p.LEU143TRP | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_069923 | Disease | p.LYS279MET | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_069921 | Disease | p.MET144ARG | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_030482 | Disease | p.MET321LEU | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_030476 | Disease | p.MET150VAL | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_003995 | Polymorphism | p.PRO433ALA | N/A |
Swiss-Prot | VAR_010651 | Disease | p.SER188LEU | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_004005 | Disease | p.SER778PRO | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_030477 | Polymorphism | p.THR166ILE | N/A |
Swiss-Prot | VAR_030474 | Disease | p.TYR141CYS | Glanzmann thrombasthenia (GT) |
Swiss-Prot | VAR_014178 | Polymorphism | p.VAL453ILE | N/A |
dbSNP | rs115600591 | Polymorphism | p.VAL14MET | N/A |
OMIM | 173470.0005 | Polymorphism | p.ARG143GLN | PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM||THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE, INCLUDED;;||POSTTRANSFUSION PURPURA, INCL |
OMIM | 173470.0001 | Disease | p.ARG214GLN | GLANZMANN THROMBASTHENIA |
OMIM | 173470.0009 | Polymorphism | p.ARG489GLN | Ca/Tu ALLOANTIGEN POLYMORPHISM||THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE, INCLUDED |
OMIM | 173470.0012 | Disease | p.ARG724TER | GLANZMANN THROMBASTHENIA |
OMIM | 173470.0003 | Disease | p.ARG214TRP | GLANZMANN THROMBASTHENIA |
OMIM | 173470.0018 | Disease | p.ASP723HIS | BLEEDING DISORDER, PLATELET-TYPE, 16 |
OMIM | 173470.0002 | Disease | p.ASP119TYR | GLANZMANN THROMBASTHENIA |
OMIM | 173470.0010 | Disease | p.CYS374TYR | GLANZMANN THROMBASTHENIA |
OMIM | 173470.0013 | Disease | p.GLU616TER | GLANZMANN THROMBASTHENIA |
OMIM | 173470.0017 | Disease | p.GLY221ASP | GLANZMANN THROMBASTHENIA |
OMIM | 173470.0006 | Polymorphism | p.LEU33PRO | PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM||THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE, INCLUDED;;||POSTTRANSFUSION PURPURA, INCLUD |
OMIM | 173470.0020 | Disease | p.LEU718PRO | BLEEDING DISORDER, PLATELET-TYPE, 16 |
OMIM | 173470.0015 | Disease | p.LEU117TRP | GLANZMANN THROMBASTHENIA |
OMIM | 173470.0016 | Disease | p.LYS253MET | GLANZMANN THROMBASTHENIA |
OMIM | 173470.0007 | Polymorphism | p.PRO407ALA | Mo ALLOANTIGEN POLYMORPHISM||THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE, INCLUDED |
OMIM | 173470.0004 | Disease | p.SER752PRO | GLANZMANN THROMBASTHENIA |