Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_016867 | Disease | p.ARG440GLN | Branchiootorenal syndrome 1 (BOR1) |
Swiss-Prot | VAR_016868 | Disease | p.ARG547GLY | Anterior segment anomalies with or without cataract (ASA) |
Swiss-Prot | VAR_016866 | Disease | p.ASP429GLY | Branchiootorenal syndrome 1 (BOR1) |
Swiss-Prot | VAR_016864 | Disease | p.GLU363LYS | Anterior segment anomalies with or without cataract (ASA) |
Swiss-Prot | VAR_070033 | Polymorphism | p.GLU41LYS | N/A |
Swiss-Prot | VAR_064944 | Disease | p.GLU363VAL | Branchiootorenal syndrome 1 (BOR1) |
Swiss-Prot | VAR_064943 | Disease | p.GLY140SER | Branchiootorenal syndrome 1 (BOR1) |
Swiss-Prot | VAR_016865 | Disease | p.GLY426SER | Branchiootorenal syndrome 1 (BOR1) |
Swiss-Prot | VAR_005204 | Disease | p.LEU505ARG | Branchiootorenal syndrome 1 (BOR1) |
Swiss-Prot | VAR_064945 | Disease | p.LEU514PRO | Branchiootorenal syndrome 1 (BOR1) |
Swiss-Prot | VAR_016869 | Disease | p.LEU583PRO | Branchiootorenal syndrome 1 (BOR1) |
Swiss-Prot | VAR_064947 | Disease | p.MET569THR | Branchiootorenal syndrome 1 (BOR1) |
dbSNP | rs1445404 | Polymorphism | p.PRO20ALA | N/A |
dbSNP | rs77825059 | Polymorphism | p.PRO261LEU | N/A |
Swiss-Prot | VAR_064942 | Disease | p.PRO95SER | Branchiootorenal syndrome 1 (BOR1) |
Swiss-Prot | VAR_044452 | Disease | p.SER242GLY | Branchiootic syndrome 1 (BOS1) |
Swiss-Prot | VAR_005203 | Disease | p.SER487PRO | Branchiootorenal syndrome 1 (BOR1) |
Swiss-Prot | VAR_064946 | Disease | p.TYR527CYS | Branchiootorenal syndrome 1 (BOR1) |
OMIM | 601653.0007 | Disease | p.ARG407GLN | BRANCHIOOTORENAL SYNDROME 1 |
OMIM | 601653.0008 | Disease | p.ARG514GLY | ANTERIOR SEGMENT ANOMALIES AND CATARACT |
OMIM | 601653.0001 | Disease | p.ARG275TER | BRANCHIOOTORENAL SYNDROME 1 |
OMIM | 601653.0015 | Disease | p.ARG328TER | BRANCHIOOTIC SYNDROME 1||BRANCHIOOTORENAL SYNDROME 1, INCLUDED |
OMIM | 601653.0009 | Disease | p.GLU330LYS | ANTERIOR SEGMENT ANOMALIES |
OMIM | 601653.0010 | Disease | p.GLY393SER | BRANCHIOOTORENAL SYNDROME WITH CATARACT |
OMIM | 601653.0013 | Disease | p.LEU472ARG | BRANCHIOOTORENAL SYNDROME 1 |
OMIM | 601653.0012 | Disease | p.SER454PRO | BRANCHIOOTORENAL SYNDROME 1 |