Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_038227 | Disease | p.ALA127GLU | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_047869 | Disease | p.ALA119SER | Hypothyroidism, congenital, non-goitrous, 5 (CHNG5) |
Swiss-Prot | VAR_038229 | Disease | p.ALA135THR | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038253 | Disease | p.ALA323THR | Tetralogy of Fallot (TOF) |
Swiss-Prot | VAR_038240 | Disease | p.ALA219VAL | Tetralogy of Fallot (TOF) |
Swiss-Prot | VAR_038246 | Disease | p.ALA281VAL | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038247 | Disease | p.ALA286VAL | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038219 | Disease | p.ALA63VAL | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038230 | Disease | p.ARG142CYS | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038234 | Disease | p.ARG190CYS | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038239 | Disease | p.ARG216CYS | Tetralogy of Fallot (TOF) |
Swiss-Prot | VAR_010116 | Disease | p.ARG25CYS | Tetralogy of Fallot (TOF) |
Swiss-Prot | VAR_038252 | Disease | p.ARG322GLN | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_010118 | Disease | p.ARG189GLY | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_047870 | Disease | p.ARG161PRO | Hypothyroidism, congenital, non-goitrous, 5 (CHNG5) |
Swiss-Prot | VAR_038248 | Disease | p.ASN294HIS | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_010117 | Disease | p.ASN188LYS | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038214 | Disease | p.ASN19SER | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_049581 | Polymorphism | p.ASP16ALA | N/A |
Swiss-Prot | VAR_038241 | Disease | p.ASP226ASN | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038249 | Disease | p.ASP299GLY | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038222 | Disease | p.CYS114ARG | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038223 | Disease | p.CYS114SER | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038233 | Disease | p.GLN187HIS | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038216 | Disease | p.GLN22PRO | Tetralogy of Fallot (TOF) |
Swiss-Prot | VAR_038215 | Disease | p.GLU21GLN | Tetralogy of Fallot (TOF) |
Swiss-Prot | VAR_038226 | Disease | p.GLU126VAL | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_069058 | Polymorphism | p.GLY74ASP | N/A |
Swiss-Prot | VAR_038251 | Disease | p.GLY320SER | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038231 | Disease | p.LEU144PRO | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038220 | Disease | p.LEU69PRO | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038212 | Disease | p.LEU7PRO | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038224 | Disease | p.LYS118ARG | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038225 | Disease | p.LYS124ARG | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038235 | Disease | p.LYS192ARG | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038237 | Disease | p.LYS194ARG | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038232 | Disease | p.LYS183GLU | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038213 | Disease | p.LYS15ILE | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038236 | Disease | p.LYS192THR | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038218 | Disease | p.PHE51LEU | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_067586 | Disease | p.PRO59ALA | Ventricular septal defect 3 (VSD3) |
Swiss-Prot | VAR_067587 | Disease | p.PRO283GLN | Ventricular septal defect 3 (VSD3) |
Swiss-Prot | VAR_069590 | Disease | p.PRO236HIS | Asplenia, isolated congenital (ICAS) |
Swiss-Prot | VAR_038221 | Disease | p.PRO77LEU | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038228 | Disease | p.PRO133SER | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038243 | Disease | p.PRO275THR | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038250 | Disease | p.SER305GLY | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038244 | Disease | p.SER279PHE | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038245 | Disease | p.SER279PRO | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038217 | Disease | p.SER45PRO | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_003752 | Disease | p.THR178MET | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_010119 | Disease | p.TYR191CYS | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038242 | Disease | p.TYR248HIS | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |
Swiss-Prot | VAR_038238 | Disease | p.VAL205GLU | Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) |