Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_062470 | Disease | p.ALA274GLU | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062449 | Disease | p.ALA172GLY | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062443 | Disease | p.ALA140PRO | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062439 | Disease | p.ALA116THR | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062453 | Disease | p.ARG185ASP | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_015582 | Disease | p.ARG185CYS | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_015581 | Disease | p.ARG185GLY | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062441 | Disease | p.ARG118HIS | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_015583 | Disease | p.ARG258HIS | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062455 | Disease | p.ARG198LEU | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062467 | Disease | p.ARG258LEU | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062454 | Disease | p.ARG185SER | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062477 | Disease | p.ARG374SER | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_015585 | Disease | p.ASN282LYS | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_011682 | Disease | p.ASN117SER | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062440 | Disease | p.ASN117THR | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062459 | Disease | p.ASN227VAL | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062447 | Disease | p.ASP156ASN | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062452 | Disease | p.ASP181ASN | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062425 | Disease | p.ASP27ASN | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062450 | Disease | p.ASP181GLY | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_015586 | Disease | p.ASP288GLY | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062451 | Disease | p.ASP181HIS | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062424 | Disease | p.ASP3TYR | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_032918 | Disease | p.ASP294VAL | Myopathy, congenital, with fiber-type disproportion (CFTD) |
Swiss-Prot | VAR_062465 | Disease | p.GLN248ARG | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062428 | Disease | p.GLN43ARG | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_015584 | Disease | p.GLN265LEU | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062464 | Disease | p.GLN248LYS | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062473 | Disease | p.GLU336ALA | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062458 | Disease | p.GLU226GLN | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062457 | Disease | p.GLU226GLY | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062463 | Disease | p.GLU243LYS | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062433 | Disease | p.GLU74LYS | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062438 | Disease | p.GLU85LYS | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_011685 | Disease | p.GLU261VAL | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_011680 | Disease | p.GLY17ARG | Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) |
Swiss-Prot | VAR_062469 | Disease | p.GLY270ARG | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062445 | Disease | p.GLY148ASP | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_015580 | Disease | p.GLY184ASP | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062466 | Disease | p.GLY253ASP | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062468 | Disease | p.GLY270ASP | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_011686 | Disease | p.GLY270CYS | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062456 | Disease | p.GLY199SER | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062429 | Disease | p.GLY44VAL | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062435 | Disease | p.HIS75ARG | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062434 | Disease | p.HIS75LEU | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_015579 | Disease | p.HIS42TYR | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062431 | Disease | p.ILE66ASN | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_015587 | Disease | p.ILE359LEU | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062436 | Disease | p.ILE77LEU | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_011683 | Disease | p.ILE138MET | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062444 | Disease | p.LEU142PRO | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_032917 | Disease | p.LEU223PRO | Myopathy, congenital, with fiber-type disproportion (CFTD) |
Swiss-Prot | VAR_011681 | Disease | p.LEU96PRO | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062479 | Disease | p.LYS375GLN | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062474 | Disease | p.LYS338GLU | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062478 | Disease | p.LYS375GLU | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062475 | Disease | p.LYS338ILE | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_013471 | Disease | p.MET271ARG | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062460 | Disease | p.MET229ILE | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062472 | Disease | p.MET285LYS | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062461 | Disease | p.MET229THR | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_013470 | Disease | p.MET134VAL | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062462 | Disease | p.MET229VAL | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062427 | Disease | p.PRO40LEU | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_032919 | Disease | p.PRO334SER | Myopathy, congenital, with fiber-type disproportion (CFTD) |
Swiss-Prot | VAR_062476 | Disease | p.SER350LEU | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062437 | Disease | p.THR79ALA | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062446 | Disease | p.THR150ASN | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062432 | Disease | p.THR68ILE | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062471 | Disease | p.TYR281HIS | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062442 | Disease | p.VAL136ALA | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_011684 | Disease | p.VAL165LEU | Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) |
Swiss-Prot | VAR_062426 | Disease | p.VAL37LEU | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062448 | Disease | p.VAL165MET | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_011687 | Disease | p.VAL372PHE | Nemaline myopathy 3 (NEM3) |
Swiss-Prot | VAR_062430 | Disease | p.VAL45PHE | Nemaline myopathy 3 (NEM3) |
OMIM | 102610.0002 | Disease | p.ASN115SER | NEMALINE MYOPATHY 3 |
OMIM | 102610.0011 | Disease | p.ASP292VAL | MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION |
OMIM | 102610.0010 | Disease | p.GLU334ALA | MYOPATHY, ACTIN, CONGENITAL, WITH CORES |
OMIM | 102610.0015 | Disease | p.GLU74ASP | NEMALINE MYOPATHY 3 |
OMIM | 102610.0005 | Disease | p.GLU259VAL | NEMALINE MYOPATHY 3 |
OMIM | 102610.0003 | Disease | p.GLY15ARG | MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS |
OMIM | 102610.0007 | Disease | p.GLY268CYS | NEMALINE MYOPATHY 3 |
OMIM | 102610.0015 | Disease | p.HIS75TYR | NEMALINE MYOPATHY 3 |
OMIM | 102610.0006 | Disease | p.ILE357LEU | NEMALINE MYOPATHY 3 |
OMIM | 102610.0008 | Disease | p.ILE136MET | NEMALINE MYOPATHY 3 |
OMIM | 102610.0012 | Disease | p.LEU221PRO | MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION |
OMIM | 102610.0001 | Disease | p.LEU94PRO | NEMALINE MYOPATHY 3 |
OMIM | 102610.0016 | Disease | p.LYS328ASN | NEMALINE MYOPATHY 3 |
OMIM | 102610.0013 | Disease | p.PRO332SER | MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION |
OMIM | 102610.0004 | Disease | p.VAL163LEU | NEMALINE MYOPATHY 3 |
OMIM | 102610.0014 | Disease | p.VAL163MET | NEMALINE MYOPATHY 3 |