Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_067616 | Disease | p.ALA346VAL | Atrioventricular septal defect 4 (AVSD4) |
Swiss-Prot | VAR_067620 | Polymorphism | p.ALA411VAL | N/A |
Swiss-Prot | VAR_067623 | Disease | p.ALA442VAL | Ventricular septal defect 1 (VSD1) |
Swiss-Prot | VAR_067605 | Disease | p.ALA6VAL | Ventricular septal defect 1 (VSD1) |
Swiss-Prot | VAR_067606 | Disease | p.ARG43TRP | Ventricular septal defect 1 (VSD1) |
Swiss-Prot | VAR_067621 | Disease | p.ASP425ASN | Atrial septal defect 2 (ASD2) |
Swiss-Prot | VAR_067615 | Disease | p.GLN316GLU | Atrial septal defect 2 (ASD2) |
Swiss-Prot | VAR_067617 | Disease | p.GLU359LYS | Ventricular septal defect 1 (VSD1) |
Swiss-Prot | VAR_067608 | Polymorphism | p.GLY93ALA | N/A |
Swiss-Prot | VAR_067613 | Disease | p.GLY296ARG | Ventricular septal defect 1 (VSD1) |
Swiss-Prot | VAR_067612 | Disease | p.GLY296CYS | Atrial septal defect 2 (ASD2) |
Swiss-Prot | VAR_016204 | Disease | p.GLY296SER | Atrial septal defect 2 (ASD2) |
Swiss-Prot | VAR_067618 | Disease | p.LEU403MET | Atrial septal defect 2 (ASD2) |
Swiss-Prot | VAR_067614 | Disease | p.MET310VAL | Atrial septal defect 2 (ASD2) |
Swiss-Prot | VAR_067619 | Disease | p.PRO407GLN | Ventricular septal defect 1 (VSD1) |
Swiss-Prot | VAR_067610 | Disease | p.PRO163SER | Atrioventricular septal defect 4 (AVSD4) |
Swiss-Prot | VAR_038196 | Polymorphism | p.SER377GLY | N/A |
Swiss-Prot | VAR_038195 | Disease | p.SER52PHE | Atrial septal defect 2 (ASD2) |
Swiss-Prot | VAR_067622 | Disease | p.SER429THR | Ventricular septal defect 1 (VSD1) |
Swiss-Prot | VAR_067611 | Disease | p.THR280MET | Atrial septal defect 2 (ASD2) |
dbSNP | rs114868912 | Polymorphism | p.VAL380MET | N/A |
OMIM | 600576.0008 | Disease | p.ALA346VAL | ATRIOVENTRICULAR SEPTAL DEFECT 4 |
OMIM | 600576.0010 | Disease | p.ALA442VAL | VENTRICULAR SEPTAL DEFECT 1 |
OMIM | 600576.0015 | Disease | p.ARG43TRP | VENTRICULAR SEPTAL DEFECT 1 |
OMIM | 600576.0005 | Disease | p.ASP425ASN | ATRIAL SEPTAL DEFECT 2||TETRALOGY OF FALLOT, INCLUDED |
OMIM | 600576.0004 | Disease | p.GLN316GLU | ATRIAL SEPTAL DEFECT 2 |
OMIM | 600576.0009 | Disease | p.GLU359LYS | VENTRICULAR SEPTAL DEFECT 1 |
OMIM | 600576.0018 | Disease | p.GLY221ARG | TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE (1 family) |
OMIM | 600576.0014 | Disease | p.GLY296ARG | VENTRICULAR SEPTAL DEFECT 1 |
OMIM | 600576.0006 | Disease | p.GLY296CYS | ATRIAL SEPTAL DEFECT 2 |
OMIM | 600576.0001 | Disease | p.GLY296SER | ATRIAL SEPTAL DEFECT 2 |
OMIM | 600576.0017 | Disease | p.MET310VAL | ATRIAL SEPTAL DEFECT 2 |
OMIM | 600576.0011 600576.0013 | Disease | p.PRO407GLN | VENTRICULAR SEPTAL DEFECT 1 |
OMIM | 600576.0007 | Disease | p.PRO163SER | ATRIOVENTRICULAR SEPTAL DEFECT 4||VENTRICULAR SEPTAL DEFECT 1, INCLUDED;;||TETRALOGY OF FALLOT, INCLUDED |
OMIM | 600576.0003 | Disease | p.SER52PHE | ATRIAL SEPTAL DEFECT 2 |
OMIM | 600576.0016 | Disease | p.THR280MET | ATRIAL SEPTAL DEFECT 2 |