Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_026113 | Disease | p.ALA246PRO | Cardiofaciocutaneous syndrome 1 (CFC1) |
Swiss-Prot | VAR_018613 | Disease | p.ARG462ILE | Colorectal cancer (CRC) |
Swiss-Prot | VAR_065173 | Disease | p.ASN580ASP | Cardiofaciocutaneous syndrome 1 (CFC1) |
Swiss-Prot | VAR_026119 | Disease | p.ASN581ASP | Cardiofaciocutaneous syndrome 1 (CFC1) |
Swiss-Prot | VAR_040393 | Polymorphism | p.ASN581SER | N/A |
Swiss-Prot | VAR_058630 | Disease | p.ASP638GLU | Cardiofaciocutaneous syndrome 1 (CFC1) |
Swiss-Prot | VAR_018624 | Disease | p.ASP594GLY | Familial non-Hodgkin lymphoma (NHL) |
Swiss-Prot | VAR_026114 | Disease | p.GLN257ARG | Cardiofaciocutaneous syndrome 1 (CFC1) |
Swiss-Prot | VAR_058631 | Disease | p.GLN709ARG | Cardiofaciocutaneous syndrome 1 (CFC1) |
Swiss-Prot | VAR_065172 | Disease | p.GLN262LYS | Cardiofaciocutaneous syndrome 1 (CFC1) |
Swiss-Prot | VAR_026117 | Disease | p.GLU501GLY | Cardiofaciocutaneous syndrome 1 (CFC1) |
Swiss-Prot | VAR_058624 | Disease | p.GLU275LYS | Cardiofaciocutaneous syndrome 1 (CFC1) |
Swiss-Prot | VAR_026118 | Disease | p.GLU501LYS | Cardiofaciocutaneous syndrome 1 (CFC1) |
Swiss-Prot | VAR_018623 | Polymorphism | p.GLU586LYS | N/A |
Swiss-Prot | VAR_018617 | Polymorphism | p.GLY466ALA | N/A |
Swiss-Prot | VAR_018620 | Disease | p.GLY469ALA | Familial non-Hodgkin lymphoma (NHL) |
Swiss-Prot | VAR_018622 | Disease | p.GLY469ARG | Familial non-Hodgkin lymphoma (NHL) |
Swiss-Prot | VAR_018626 | Polymorphism | p.GLY596ARG | N/A |
Swiss-Prot | VAR_018615 | Disease | p.GLY464GLU | Colorectal cancer (CRC) |
Swiss-Prot | VAR_018618 | Polymorphism | p.GLY466GLU | N/A |
Swiss-Prot | VAR_018621 | Disease | p.GLY469GLU | Cardiofaciocutaneous syndrome 1 (CFC1) |
Swiss-Prot | VAR_018616 | Polymorphism | p.GLY464VAL | N/A |
Swiss-Prot | VAR_018512 | Disease | p.GLY466VAL | Lung cancer (LNCR) |
Swiss-Prot | VAR_040392 | Polymorphism | p.GLY469VAL | N/A |
Swiss-Prot | VAR_035098 | Disease | p.GLY596VAL | Cardiofaciocutaneous syndrome 1 (CFC1) |
Swiss-Prot | VAR_018614 | Disease | p.ILE463SER | Colorectal cancer (CRC) |
Swiss-Prot | VAR_018513 | Disease | p.LEU597ARG | Lung cancer (LNCR) |
Swiss-Prot | VAR_058623 | Disease | p.LEU245PHE | Cardiofaciocutaneous syndrome 1 (CFC1) |
Swiss-Prot | VAR_026115 | Disease | p.LEU485PHE | Cardiofaciocutaneous syndrome 1 (CFC1) |
Swiss-Prot | VAR_058626 | Disease | p.LEU525PRO | Cardiofaciocutaneous syndrome 1 (CFC1) |
Swiss-Prot | VAR_018627 | Disease | p.LEU597VAL | Noonan syndrome 7 (NS7) |
Swiss-Prot | VAR_058625 | Disease | p.LYS499ASN | Cardiofaciocutaneous syndrome 1 (CFC1) |
Swiss-Prot | VAR_058629 | Disease | p.LYS601GLN | Cardiofaciocutaneous syndrome 1 (CFC1) |
Swiss-Prot | VAR_026116 | Disease | p.LYS499GLU | Cardiofaciocutaneous syndrome 1 (CFC1) |
Swiss-Prot | VAR_018630 | Disease | p.LYS601GLU | Colorectal cancer (CRC) |
Swiss-Prot | VAR_018625 | Polymorphism | p.PHE595LEU | N/A |
Swiss-Prot | VAR_035097 | Disease | p.PHE468SER | Cardiofaciocutaneous syndrome 1 (CFC1) |
Swiss-Prot | VAR_040391 | Polymorphism | p.PRO301SER | N/A |
Swiss-Prot | VAR_035096 | Disease | p.SER467ALA | Cardiofaciocutaneous syndrome 1 (CFC1) |
Swiss-Prot | VAR_058622 | Polymorphism | p.THR241ARG | N/A |
Swiss-Prot | VAR_058628 | Disease | p.THR599ARG | Cardiofaciocutaneous syndrome 1 (CFC1) |
Swiss-Prot | VAR_058620 | Polymorphism | p.THR241MET | N/A |
Swiss-Prot | VAR_058621 | Disease | p.THR241PRO | LEOPARD syndrome 3 (LEOPARD3) |
Swiss-Prot | VAR_065171 | Disease | p.THR244PRO | Cardiofaciocutaneous syndrome 1 (CFC1) |
Swiss-Prot | VAR_058627 | Disease | p.TRP531CYS | Noonan syndrome 7 (NS7) |
Swiss-Prot | VAR_018628 | Polymorphism | p.VAL600ASP | N/A |
Swiss-Prot | VAR_018629 | Disease | p.VAL600GLU | Colorectal cancer (CRC) |
OMIM | 164757.0012 | Disease | p.ALA246PRO | CARDIOFACIOCUTANEOUS SYNDROME 1 |
OMIM | 164757.0002 | Disease | p.ARG462ILE | COLON CANCER, SOMATIC |
OMIM | 164757.0019 | Disease | p.ASN581ASP | CARDIOFACIOCUTANEOUS SYNDROME 1 |
OMIM | 164757.0021 | Disease | p.ASP638GLU | CARDIOFACIOCUTANEOUS SYNDROME 1 |
OMIM | 164757.0011 | Disease | p.ASP594GLY | LYMPHOMA, NON-HODGKIN, SOMATIC |
OMIM | 164757.0013 | Disease | p.GLN257ARG | CARDIOFACIOCUTANEOUS SYNDROME 1 |
OMIM | 164757.0018 | Disease | p.GLU501GLY | CARDIOFACIOCUTANEOUS SYNDROME 1 |
OMIM | 164757.0017 | Disease | p.GLU501LYS | CARDIOFACIOCUTANEOUS SYNDROME 1 |
OMIM | 164757.0010 | Disease | p.GLY469ALA | LYMPHOMA, NON-HODGKIN, SOMATIC |
OMIM | 164757.0009 | Disease | p.GLY469ARG | LYMPHOMA, NON-HODGKIN, SOMATIC |
OMIM | 164757.0020 | Disease | p.GLY534ARG | CARDIOFACIOCUTANEOUS SYNDROME 1 |
OMIM | 164757.0004 | Disease | p.GLY464GLU | COLORECTAL CANCER, SOMATIC |
OMIM | 164757.0014 | Disease | p.GLY469GLU | CARDIOFACIOCUTANEOUS SYNDROME 1 |
OMIM | 164757.0006 | Disease | p.GLY466VAL | ADENOCARCINOMA OF LUNG, SOMATIC |
OMIM | 164757.0003 | Disease | p.ILE463SER | COLORECTAL CANCER, SOMATIC |
OMIM | 164757.0007 | Disease | p.LEU597ARG | ADENOCARCINOMA OF LUNG, SOMATIC |
OMIM | 164757.0015 | Disease | p.LEU485PHE | CARDIOFACIOCUTANEOUS SYNDROME 1 |
OMIM | 164757.0008 164757.0026 | Disease | p.LEU597VAL | NOONAN SYNDROME 7 |
OMIM | 164757.0016 | Disease | p.LYS499GLU | CARDIOFACIOCUTANEOUS SYNDROME 1 |
OMIM | 164757.0005 | Disease | p.LYS601GLU | COLORECTAL CANCER, SOMATIC||THYROID CARCINOMA, FOLLICULAR, SOMATIC, INCLUDED |
OMIM | 164757.0023 | Disease | p.THR241ARG | NOONAN SYNDROME 7 |
OMIM | 164757.0022 | Disease | p.THR241MET | NOONAN SYNDROME 7 |
OMIM | 164757.0024 | Disease | p.THR241PRO | CARDIOFACIOCUTANEOUS SYNDROME 1||LEOPARD SYNDROME 3, INCLUDED |
OMIM | 164757.0025 | Disease | p.TRP531CYS | NOONAN SYNDROME 7 |
OMIM | 164757.0001 | Disease | p.VAL600GLU | MELANOMA, MALIGNANT, SOMATIC||COLORECTAL CANCER, SOMATIC, INCLUDED;;||THYROID CARCINOMA, PAPILLARY, SOMATIC, INCLUDED;;| |