Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_022353 | Disease | p.ALA355PRO | Loeys-Dietz syndrome 1B (LDS1B) |
Swiss-Prot | VAR_029760 | Disease | p.ARG460CYS | Loeys-Dietz syndrome 2B (LDS2B) |
Swiss-Prot | VAR_022360 | Disease | p.ARG528CYS | Loeys-Dietz syndrome 1B (LDS1B) |
Swiss-Prot | VAR_022362 | Disease | p.ARG537CYS | Loeys-Dietz syndrome 2B (LDS2B) |
Swiss-Prot | VAR_029761 | Disease | p.ARG460HIS | Loeys-Dietz syndrome 2B (LDS2B) |
Swiss-Prot | VAR_022361 | Disease | p.ARG528HIS | Loeys-Dietz syndrome 1B (LDS1B) |
Swiss-Prot | VAR_022356 | Polymorphism | p.ASN435SER | N/A |
Swiss-Prot | VAR_041417 | Polymorphism | p.ASN490SER | N/A |
Swiss-Prot | VAR_066725 | Disease | p.ASP446ASN | Loeys-Dietz syndrome 1B (LDS1B) |
Swiss-Prot | VAR_066730 | Disease | p.CYS514ARG | Loeys-Dietz syndrome 1B (LDS1B) |
Swiss-Prot | VAR_041414 | Polymorphism | p.CYS61ARG | N/A |
Swiss-Prot | VAR_015816 | Disease | p.GLU526GLN | Esophageal cancer (ESCR) |
Swiss-Prot | VAR_022354 | Disease | p.GLY357TRP | Loeys-Dietz syndrome 1B (LDS1B) |
Swiss-Prot | VAR_066727 | Disease | p.GLY509VAL | Loeys-Dietz syndrome 1B (LDS1B) |
Swiss-Prot | VAR_066724 | Disease | p.HIS377ARG | Loeys-Dietz syndrome 1B (LDS1B) |
Swiss-Prot | VAR_041415 | Polymorphism | p.HIS328TYR | N/A |
Swiss-Prot | VAR_066728 | Disease | p.ILE510PHE | Loeys-Dietz syndrome 1B (LDS1B) |
Swiss-Prot | VAR_066729 | Disease | p.ILE510SER | Loeys-Dietz syndrome 2B (LDS2B) |
Swiss-Prot | VAR_036070 | Polymorphism | p.ILE73VAL | N/A |
Swiss-Prot | VAR_022359 | Polymorphism | p.LEU452MET | N/A |
Swiss-Prot | VAR_022351 | Disease | p.LEU308PRO | Loeys-Dietz syndrome 2B (LDS2B) |
Swiss-Prot | VAR_041416 | Polymorphism | p.MET373ILE | N/A |
Swiss-Prot | VAR_066726 | Disease | p.MET457LYS | Loeys-Dietz syndrome 1B (LDS1B) |
Swiss-Prot | VAR_020510 | Polymorphism | p.MET36VAL | N/A |
Swiss-Prot | VAR_022358 | Disease | p.SER449PHE | Loeys-Dietz syndrome 2B (LDS2B) |
Swiss-Prot | VAR_008156 | Disease | p.THR315MET | Hereditary non-polyposis colorectal cancer 6 (HNPCC6) |
Swiss-Prot | VAR_066731 | Disease | p.TRP521ARG | Loeys-Dietz syndrome 1B (LDS1B) |
Swiss-Prot | VAR_022352 | Disease | p.TYR336ASN | Loeys-Dietz syndrome 1B (LDS1B) |
Swiss-Prot | VAR_028063 | Polymorphism | p.VAL439ALA | N/A |
Swiss-Prot | VAR_022357 | Polymorphism | p.VAL447ALA | N/A |
Swiss-Prot | VAR_017606 | Polymorphism | p.VAL191ILE | N/A |
Swiss-Prot | VAR_022355 | Polymorphism | p.VAL387MET | N/A |
OMIM | 190182.0009 | Disease | p.ALA330PRO | LOEYS-DIETZ SYNDROME, TYPE 1B |
OMIM | 190182.0014 | Disease | p.ARG435CYS | LOEYS-DIETZ SYNDROME, TYPE 2B |
OMIM | 190182.0012 | Disease | p.ARG503CYS | LOEYS-DIETZ SYNDROME, TYPE 1B |
OMIM | 190182.0007 | Disease | p.ARG512CYS | LOEYS-DIETZ SYNDROME, TYPE 2B |
OMIM | 190182.0015 | Disease | p.ARG435HIS | LOEYS-DIETZ SYNDROME, TYPE 2B |
OMIM | 190182.0011 | Disease | p.ARG503HIS | LOEYS-DIETZ SYNDROME, TYPE 1B||COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6, SOMATIC, INCLUDED |
OMIM | 190182.0019 | Disease | p.ARG470TER | LOEYS-DIETZ SYNDROME, TYPE 1B |
OMIM | 190182.0004 | Disease | p.GLN483GLN | LOEYS-DIETZ SYNDROME, TYPE 2B |
OMIM | 190182.0003 | Disease | p.GLU501GLN | ESOPHAGEAL CANCER, SOMATIC |
OMIM | 190182.0010 | Disease | p.GLY332TRP | LOEYS-DIETZ SYNDROME, TYPE 1B |
OMIM | 190182.0005 | Disease | p.LEU283PRO | LOEYS-DIETZ SYNDROME, TYPE 2B||LOEYS-DIETZ SYNDROME, TYPE 1B, INCLUDED |
OMIM | 190182.0017 | Disease | p.MET400VAL | LOEYS-DIETZ SYNDROME, TYPE 2B |
OMIM | 190182.0018 | Disease | p.PRO402LEU | LOEYS-DIETZ SYNDROME, TYPE 2B |
OMIM | 190182.0006 | Disease | p.SER424PHE | LOEYS-DIETZ SYNDROME, TYPE 2B |
OMIM | 190182.0002 | Disease | p.THR290MET | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 |
OMIM | 190182.0008 | Disease | p.TYR311ASN | LOEYS-DIETZ SYNDROME, TYPE 1B |