Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_029484 | Disease | p.ARG487GLN | Loeys-Dietz syndrome 2A (LDS2A) |
Swiss-Prot | VAR_022347 | Disease | p.ARG487PRO | Loeys-Dietz syndrome 2A (LDS2A) |
Swiss-Prot | VAR_029485 | Disease | p.ARG487TRP | Loeys-Dietz syndrome 2A (LDS2A) |
Swiss-Prot | VAR_029483 | Polymorphism | p.ASN267HIS | N/A |
Swiss-Prot | VAR_065827 | Disease | p.ASN45SER | Multiple self-healing squamous epithelioma (MSSE) |
Swiss-Prot | VAR_066721 | Disease | p.ASP351GLY | Loeys-Dietz syndrome 1A (LDS1A) |
Swiss-Prot | VAR_022346 | Disease | p.ASP400GLY | Loeys-Dietz syndrome 1A (LDS1A) |
Swiss-Prot | VAR_066720 | Disease | p.ASP266TYR | Loeys-Dietz syndrome 1A (LDS1A) |
Swiss-Prot | VAR_065826 | Disease | p.CYS41TYR | Multiple self-healing squamous epithelioma (MSSE) |
Swiss-Prot | VAR_065828 | Disease | p.GLY52ARG | Multiple self-healing squamous epithelioma (MSSE) |
Swiss-Prot | VAR_054160 | Polymorphism | p.ILE139VAL | N/A |
Swiss-Prot | VAR_029481 | Disease | p.LYS232GLU | Loeys-Dietz syndrome 2A (LDS2A) |
Swiss-Prot | VAR_022345 | Disease | p.MET318ARG | Loeys-Dietz syndrome 1A (LDS1A) |
Swiss-Prot | VAR_065829 | Disease | p.PRO83LEU | Multiple self-healing squamous epithelioma (MSSE) |
Swiss-Prot | VAR_029482 | Disease | p.SER241LEU | Loeys-Dietz syndrome 1A (LDS1A) |
Swiss-Prot | VAR_022344 | Disease | p.THR200ILE | Loeys-Dietz syndrome 1A (LDS1A) |
Swiss-Prot | VAR_066722 | Disease | p.THR375ILE | Loeys-Dietz syndrome 1A (LDS1A) |
Swiss-Prot | VAR_041413 | Polymorphism | p.TYR291CYS | N/A |
Swiss-Prot | VAR_041412 | Polymorphism | p.VAL153ILE | N/A |
OMIM | 190181.0006 | Disease | p.ARG487GLN | LOEYS-DIETZ SYNDROME, TYPE 2A |
OMIM | 190181.0004 | Disease | p.ARG487PRO | LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A, INCLUDED |
OMIM | 190181.0012 | Disease | p.ARG414TER | MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO |
OMIM | 190181.0007 | Disease | p.ARG487TRP | LOEYS-DIETZ SYNDROME, TYPE 2A |
OMIM | 190181.0009 | Disease | p.ASN45SER | MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO |
OMIM | 190181.0002 | Disease | p.ASP400GLY | LOEYS-DIETZ SYNDROME, TYPE 1A |
OMIM | 190181.0010 | Disease | p.GLY52ARG | MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO |
OMIM | 190181.0008 | Disease | p.GLY174VAL | LOEYS-DIETZ SYNDROME, TYPE 2A |
OMIM | 190181.0001 | Disease | p.MET318ARG | LOEYS-DIETZ SYNDROME, TYPE 1A |
OMIM | 190181.0005 | Disease | p.SER241LEU | LOEYS-DIETZ SYNDROME, TYPE 1A |
OMIM | 190181.0003 | Disease | p.THR200ILE | LOEYS-DIETZ SYNDROME, TYPE 1A |