Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_004411 | Disease | p.ALA191GLU | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026601 | Disease | p.ALA197GLU | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_004418 | Disease | p.ALA377GLU | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022408 | Disease | p.ALA535PRO | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_023474 | Disease | p.ALA324THR | Methylmalonic aciduria type mut (MMAM) |
dbSNP | rs2229385 | Polymorphism | p.ALA499THR | N/A |
Swiss-Prot | VAR_022395 | Disease | p.ALA137VAL | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026596 | Disease | p.ARG108CYS | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026612 | Disease | p.ARG369CYS | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_023476 | Disease | p.ARG616CYS | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_004412 | Disease | p.ARG228GLN | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026597 | Disease | p.ARG108GLY | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022394 | Disease | p.ARG108HIS | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_004417 | Disease | p.ARG369HIS | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_004419 | Polymorphism | p.ARG532HIS | N/A |
Swiss-Prot | VAR_004409 | Disease | p.ARG93HIS | Methylmalonic aciduria type mut (MMAM) |
dbSNP | rs1141321 | Polymorphism | p.ARG532PRO | N/A |
Swiss-Prot | VAR_004430 | Disease | p.ARG694TRP | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026617 | Disease | p.ASN388HIS | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026600 | Disease | p.ASN189LYS | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022403 | Disease | p.ASN219TYR | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022397 | Disease | p.ASP156ASN | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022416 | Disease | p.ASP640TYR | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026623 | Disease | p.CYS560TYR | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_023473 | Disease | p.GLN109ARG | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022412 | Disease | p.GLN624ARG | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022402 | Disease | p.GLN218HIS | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026614 | Disease | p.GLN383HIS | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022405 | Disease | p.GLN293PRO | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026615 | Disease | p.GLN383PRO | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022400 | Disease | p.GLY203ARG | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026620 | Disease | p.GLY426ARG | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_004420 | Disease | p.GLY623ARG | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026627 | Disease | p.GLY637ARG | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022417 | Disease | p.GLY642ARG | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_004431 | Disease | p.GLY703ARG | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026594 | Disease | p.GLY94ARG | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026621 | Disease | p.GLY427ASP | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_004424 | Disease | p.GLY648ASP | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026602 | Disease | p.GLY215CYS | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_004421 | Disease | p.GLY626CYS | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026606 | Disease | p.GLY291GLU | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_004422 | Disease | p.GLY630GLU | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022414 | Disease | p.GLY637GLU | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026593 | Disease | p.GLY87GLU | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026598 | Disease | p.GLY145SER | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022401 | Disease | p.GLY215SER | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022398 | Disease | p.GLY158VAL | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_004414 | Disease | p.GLY312VAL | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_004432 | Disease | p.GLY717VAL | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022393 | Disease | p.GLY94VAL | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022413 | Disease | p.HIS627ARG | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_004427 | Disease | p.HIS678ARG | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026616 | Disease | p.HIS386ASN | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026604 | Disease | p.HIS265TYR | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026611 | Disease | p.HIS350TYR | Methylmalonic aciduria type mut (MMAM) |
dbSNP | rs8589 | Polymorphism | p.ILE671VAL | N/A |
Swiss-Prot | VAR_023472 | Polymorphism | p.ILE69VAL | N/A |
Swiss-Prot | VAR_026610 | Disease | p.LEU347ARG | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_023477 | Disease | p.LEU617ARG | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_004429 | Disease | p.LEU685ARG | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022406 | Disease | p.LEU328PHE | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_023475 | Disease | p.LEU328PRO | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026622 | Disease | p.LEU518PRO | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026605 | Disease | p.LEU281SER | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026607 | Disease | p.LEU305SER | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022411 | Disease | p.LYS621ASN | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022418 | Disease | p.MET700LYS | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026599 | Disease | p.MET186VAL | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022415 | Disease | p.PHE638ILE | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022399 | Disease | p.PHE174SER | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026625 | Disease | p.PHE573SER | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026626 | Disease | p.PRO615ARG | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026595 | Disease | p.PRO95ARG | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026592 | Disease | p.PRO86LEU | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022410 | Disease | p.PRO615THR | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022404 | Disease | p.SER262ASN | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022396 | Disease | p.SER148LEU | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026608 | Disease | p.SER306PHE | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_030495 | Polymorphism | p.THR598ALA | N/A |
Swiss-Prot | VAR_026624 | Disease | p.THR566ARG | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026603 | Disease | p.THR230ILE | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026613 | Disease | p.THR370PRO | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_004410 | Disease | p.TRP105ARG | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_004413 | Disease | p.TYR231ASN | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_026609 | Disease | p.TYR316CYS | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_022409 | Disease | p.TYR587CYS | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_004416 | Disease | p.VAL368ASP | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_004425 | Disease | p.VAL669GLU | Methylmalonic aciduria type mut (MMAM) |
Swiss-Prot | VAR_004423 | Disease | p.VAL633GLY | Methylmalonic aciduria type mut (MMAM) |
OMIM | 609058.0003 | Disease | p.ALA378GLU | METHYLMALONIC ACIDURIA, mut(0) TYPE |
OMIM | 609058.0011 | Disease | p.ARG108CYS | METHYLMALONIC ACIDURIA, mut(0) TYPE |
OMIM | 609058.0004 | Disease | p.ARG93HIS | METHYLMALONIC ACIDURIA, mut(0) TYPE |
OMIM | 609058.0010 | Disease | p.ASN219TYR | METHYLMALONIC ACIDURIA, mut(0) TYPE |
OMIM | 609058.0001 | Disease | p.GLN17TER | METHYLMALONIC ACIDURIA, mut(0) TYPE |
OMIM | 609058.0006 | Disease | p.GLU117TER | METHYLMALONIC ACIDURIA, mut(-) TYPE |
OMIM | 609058.0008 | Disease | p.GLY623ARG | METHYLMALONIC ACIDURIA, mut(0) TYPE |
OMIM | 609058.0009 | Disease | p.GLY703ARG | METHYLMALONIC ACIDURIA, mut(0) TYPE |
OMIM | 609058.0012 | Disease | p.GLY215SER | METHYLMALONIC ACIDURIA, mut(0) TYPE |
OMIM | 609058.0005 | Disease | p.GLY717VAL | METHYLMALONIC ACIDURIA, mut(-) TYPE |
OMIM | 609058.0002 | Disease | p.TRP105ARG | METHYLMALONIC ACIDURIA, mut(0) TYPE |