Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_006439 | Disease | p.ALA246GLU | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_025605 | Disease | p.ALA431GLU | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006459 | Disease | p.ALA426PRO | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006435 | Disease | p.ALA231THR | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_070026 | Polymorphism | p.ALA396THR | N/A |
Swiss-Prot | VAR_009213 | Disease | p.ALA409THR | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006436 | Disease | p.ALA231VAL | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006441 | Disease | p.ALA260VAL | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006452 | Disease | p.ALA285VAL | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006413 | Disease | p.ALA79VAL | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006447 | Disease | p.ARG269GLY | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006448 | Disease | p.ARG269HIS | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006449 | Disease | p.ARG278THR | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_010121 | Disease | p.ASN135ASP | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_010129 | Disease | p.ASN405SER | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_064902 | Disease | p.ASP333GLY | Cardiomyopathy, dilated 1U (CMD1U) |
Swiss-Prot | VAR_006443 | Disease | p.CYS263ARG | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_016214 | Disease | p.CYS92SER | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006458 | Disease | p.CYS410TYR | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006450 | Disease | p.GLU280ALA | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006418 | Disease | p.GLU120ASP | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006451 | Disease | p.GLU280GLY | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006454 | Polymorphism | p.GLU318GLY | N/A |
Swiss-Prot | VAR_006419 | Disease | p.GLU120LYS | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_016218 | Disease | p.GLY206ALA | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006456 | Disease | p.GLY384ALA | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_009210 | Disease | p.GLY209ARG | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006455 | Disease | p.GLY378GLU | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_016219 | Disease | p.GLY266SER | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006433 | Disease | p.GLY209VAL | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006428 | Disease | p.HIS163ARG | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006429 | Disease | p.HIS163TYR | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_070024 | Polymorphism | p.HIS214TYR | N/A |
Swiss-Prot | VAR_006423 | Disease | p.ILE143PHE | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006424 | Disease | p.ILE143THR | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006434 | Disease | p.ILE213THR | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_070023 | Polymorphism | p.LEU134ARG | N/A |
Swiss-Prot | VAR_009212 | Disease | p.LEU282ARG | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_016217 | Disease | p.LEU174MET | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006442 | Disease | p.LEU262PHE | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_016215 | Disease | p.LEU113PRO | Frontotemporal dementia (FTD) |
Swiss-Prot | VAR_016216 | Disease | p.LEU166PRO | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006432 | Disease | p.LEU171PRO | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_010126 | Disease | p.LEU219PRO | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006438 | Polymorphism | p.LEU235PRO | N/A |
Swiss-Prot | VAR_006440 | Disease | p.LEU250SER | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_010125 | Disease | p.LEU173TRP | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_070025 | Disease | p.LEU262VAL | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_016220 | Disease | p.LEU271VAL | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006453 | Disease | p.LEU286VAL | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006457 | Disease | p.LEU392VAL | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006420 | Disease | p.MET139ILE | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006425 | Disease | p.MET146ILE | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006426 | Disease | p.MET146LEU | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_009211 | Disease | p.MET233LEU | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_010122 | Disease | p.MET139LYS | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006421 | Disease | p.MET139THR | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006437 | Disease | p.MET233THR | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006422 | Disease | p.MET139VAL | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006427 | Disease | p.MET146VAL | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_009208 | Disease | p.PHE105LEU | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_011876 | Polymorphism | p.PHE205LEU | N/A |
Swiss-Prot | VAR_006460 | Disease | p.PRO436GLN | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_009209 | Disease | p.PRO117LEU | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006444 | Disease | p.PRO264LEU | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006445 | Disease | p.PRO267SER | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_008141 | Disease | p.PRO436SER | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006446 | Disease | p.PRO267THR | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_010127 | Disease | p.SER289CYS | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_010128 | Disease | p.SER390ILE | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006430 | Disease | p.SER169LEU | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006431 | Disease | p.SER169PRO | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_010120 | Disease | p.THR116ASN | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_010123 | Disease | p.THR147ILE | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_010124 | Disease | p.TRP165CYS | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006416 | Disease | p.TYR115CYS | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_064747 | Polymorphism | p.TYR315CYS | N/A |
Swiss-Prot | VAR_006417 | Disease | p.TYR115HIS | Alzheimer disease 3 (AD3) |
dbSNP | rs199723282 | Polymorphism | p.VAL261GLY | N/A |
Swiss-Prot | VAR_006414 | Disease | p.VAL82LEU | Alzheimer disease 3 (AD3) |
Swiss-Prot | VAR_006415 | Disease | p.VAL96PHE | Alzheimer disease 3 (AD3) |
OMIM | 104311.0003 | Disease | p.ALA246GLU | ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM | 104311.0033 | Disease | p.ALA431GLU | ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM | 104311.0014 | Disease | p.ALA426PRO | ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM | 104311.0035 | Disease | p.ALA79VAL | ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM | 104311.0030 | Disease | p.ARG278ILE | ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM | 104311.0017 | Disease | p.ARG278THR | ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL||PLAQUES |
OMIM | 104311.0034 | Disease | p.ASP333GLY | CARDIOMYOPATHY, DILATED, 1U |
OMIM | 104311.0020 | Disease | p.CYS92SER | ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM | 104311.0005 | Disease | p.CYS410TYR | ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM | 104311.0009 | Disease | p.GLU280ALA | ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM | 104311.0013 | Disease | p.GLU120ASP | ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM | 104311.0010 | Disease | p.GLU280GLY | ALZHEIMER DISEASE, FAMILIAL, 3||ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL||PLAQUES, INCLUDED |
OMIM | 104311.0021 | Disease | p.GLY206ALA | ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM | 104311.0037 | Disease | p.GLY217ARG | ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES |
OMIM | 104311.0022 | Disease | p.GLY266SER | ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA |
OMIM | 104311.0027 | Disease | p.GLY183VAL | PICK DISEASE OF BRAIN |
OMIM | 104311.0002 | Disease | p.HIS163ARG | ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM | 104311.0008 | Disease | p.HIS163TYR | ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM | 104311.0025 | Disease | p.LEU174MET | ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM | 104311.0023 | Disease | p.LEU113PRO | DEMENTIA, FRONTOTEMPORAL |
OMIM | 104311.0024 | Disease | p.LEU166PRO | ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM | 104311.0031 | Disease | p.LEU85PRO | ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA |
OMIM | 104311.0016 | Disease | p.LEU250SER | ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM | 104311.0026 | Disease | p.LEU271VAL | ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES |
OMIM | 104311.0004 | Disease | p.LEU286VAL | ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM | 104311.0015 | Disease | p.MET146ILE | ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM | 104311.0001 | Disease | p.MET146LEU | ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM | 104311.0006 | Disease | p.MET139VAL | ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM | 104311.0007 | Disease | p.MET146VAL | ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM | 104311.0028 | Disease | p.PRO436GLN | ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM | 104311.0011 | Disease | p.PRO267SER | ALZHEIMER DISEASE, FAMILIAL, 3 |
OMIM | 104311.0036 | Disease | p.SER170PHE | ALZHEIMER DISEASE, FAMILIAL, 3 |