Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_018097 | Disease | p.ALA880ASP | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_029036 | Disease | p.ALA445PRO | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068600 | Disease | p.ALA486PRO | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_029027 | Disease | p.ALA237VAL | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068616 | Disease | p.ALA610VAL | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_029035 | Disease | p.ARG437CYS | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_018095 | Disease | p.ARG600CYS | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_046479 | Disease | p.ARG702CYS | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068575 | Disease | p.ARG224GLN | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_004307 | Disease | p.ARG672GLN | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068570 | Disease | p.ARG190HIS | Glycogen storage disease 2 (GSD2) |
dbSNP | rs1042395 | Polymorphism | p.ARG223HIS | N/A |
Swiss-Prot | VAR_068612 | Disease | p.ARG594HIS | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_008689 | Disease | p.ARG600HIS | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_046477 | Disease | p.ARG660HIS | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068565 | Polymorphism | p.ARG74HIS | N/A |
Swiss-Prot | VAR_068566 | Polymorphism | p.ARG89HIS | N/A |
Swiss-Prot | VAR_046469 | Disease | p.ARG375LEU | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068626 | Disease | p.ARG702LEU | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068611 | Polymorphism | p.ARG585LYS | N/A |
Swiss-Prot | VAR_046472 | Disease | p.ARG585MET | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068574 | Disease | p.ARG224PRO | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068613 | Disease | p.ARG594PRO | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068633 | Disease | p.ARG819PRO | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_046478 | Disease | p.ARG672THR | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_029026 | Disease | p.ARG224TRP | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_004308 | Disease | p.ARG672TRP | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_004310 | Disease | p.ARG725TRP | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068583 | Polymorphism | p.ASN290ASP | N/A |
Swiss-Prot | VAR_068587 | Disease | p.ASN316ILE | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068607 | Disease | p.ASN570LYS | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068622 | Disease | p.ASN635LYS | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_029033 | Disease | p.ASP404ASN | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_029037 | Disease | p.ASP489ASN | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_004304 | Disease | p.ASP645ASN | Glycogen storage disease 2 (GSD2) |
dbSNP | rs1800299 | Polymorphism | p.ASP91ASN | N/A |
Swiss-Prot | VAR_004302 | Disease | p.ASP645GLU | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_004303 | Disease | p.ASP645HIS | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068595 | Disease | p.ASP419VAL | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068567 | Disease | p.CYS103ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_018087 | Disease | p.CYS374ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_018078 | Disease | p.CYS103GLY | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068568 | Disease | p.CYS108GLY | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068569 | Disease | p.CYS127PHE | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068606 | Disease | p.CYS558SER | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_004305 | Disease | p.CYS647TRP | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_046470 | Disease | p.GLN401ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068630 | Disease | p.GLN743LYS | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068601 | Disease | p.GLU521GLN | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_029028 | Disease | p.GLU262LYS | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_004295 | Disease | p.GLU521LYS | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_018094 | Disease | p.GLU579LYS | Glycogen storage disease 2 (GSD2) |
dbSNP | rs1800309 | Polymorphism | p.GLU689LYS | N/A |
Swiss-Prot | VAR_004299 | Polymorphism | p.GLY576ALA | N/A |
Swiss-Prot | VAR_018079 | Disease | p.GLY219ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_018082 | Disease | p.GLY293ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_018084 | Disease | p.GLY309ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068590 | Disease | p.GLY335ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068592 | Polymorphism | p.GLY359ARG | N/A |
Swiss-Prot | VAR_029032 | Disease | p.GLY377ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_004291 | Disease | p.GLY478ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_018091 | Disease | p.GLY549ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068610 | Disease | p.GLY576ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_008690 | Disease | p.GLY615ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_004301 | Disease | p.GLY643ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_018096 | Disease | p.GLY607ASP | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068617 | Polymorphism | p.GLY611ASP | N/A |
Swiss-Prot | VAR_068624 | Disease | p.GLY648ASP | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068589 | Disease | p.GLY335GLU | Glycogen storage disease 2 (GSD2) |
dbSNP | rs1800307 | Polymorphism | p.GLY576SER | N/A |
Swiss-Prot | VAR_004306 | Disease | p.GLY648SER | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_046476 | Disease | p.GLY638TRP | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068599 | Disease | p.GLY483VAL | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068623 | Disease | p.GLY638VAL | Glycogen storage disease 2 (GSD2) |
dbSNP | rs1042393 | Polymorphism | p.HIS199ARG | N/A |
Swiss-Prot | VAR_068608 | Disease | p.HIS572GLN | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_029038 | Disease | p.HIS612GLN | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_046468 | Disease | p.HIS308LEU | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_070018 | Disease | p.HIS568LEU | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_018083 | Disease | p.HIS308PRO | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068618 | Disease | p.HIS612TYR | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068605 | Disease | p.ILE557PHE | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_004288 | Disease | p.LEU299ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_018085 | Disease | p.LEU312ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_029039 | Disease | p.LEU901GLN | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068584 | Disease | p.LEU291PHE | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_029025 | Disease | p.LEU208PRO | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068585 | Disease | p.LEU291PRO | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_018086 | Disease | p.LEU355PRO | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_018088 | Disease | p.LEU405PRO | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_018092 | Disease | p.LEU552PRO | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068635 | Disease | p.LEU935PRO | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068588 | Disease | p.MET318LYS | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_004289 | Disease | p.MET318THR | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_004293 | Disease | p.MET519THR | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068593 | Polymorphism | p.MET391VAL | N/A |
Swiss-Prot | VAR_029034 | Disease | p.MET408VAL | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_004294 | Disease | p.MET519VAL | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068604 | Disease | p.PHE525TYR | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_046471 | Disease | p.PRO522ALA | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_018080 | Disease | p.PRO285ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068591 | Disease | p.PRO347ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068598 | Disease | p.PRO482ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_004312 | Disease | p.PRO768ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_070020 | Disease | p.PRO913ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068596 | Disease | p.PRO457HIS | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068571 | Disease | p.PRO217LEU | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_029029 | Disease | p.PRO324LEU | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_029031 | Disease | p.PRO361LEU | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068594 | Disease | p.PRO397LEU | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_029040 | Disease | p.PRO457LEU | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_004297 | Disease | p.PRO545LEU | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068621 | Polymorphism | p.PRO629LEU | N/A |
Swiss-Prot | VAR_068580 | Disease | p.PRO266SER | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068582 | Disease | p.PRO285SER | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068602 | Disease | p.PRO522SER | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_046475 | Disease | p.SER619ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068578 | Disease | p.SER251LEU | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068579 | Disease | p.SER254LEU | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068614 | Disease | p.SER601LEU | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068564 | Disease | p.SER46PRO | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_004298 | Disease | p.SER566PRO | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068620 | Disease | p.SER627PRO | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068603 | Disease | p.SER523TYR | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_046473 | Disease | p.SER599TYR | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_004296 | Disease | p.SER529VAL | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068581 | Polymorphism | p.THR271ALA | N/A |
Swiss-Prot | VAR_068615 | Disease | p.THR602ALA | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068577 | Disease | p.THR234ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068627 | Polymorphism | p.THR711ARG | N/A |
Swiss-Prot | VAR_068629 | Disease | p.THR737ASN | Glycogen storage disease 2 (GSD2) |
dbSNP | rs1800315 | Polymorphism | p.THR927ILE | N/A |
Swiss-Prot | VAR_068576 | Disease | p.THR234LYS | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068619 | Disease | p.THR614LYS | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_004290 | Disease | p.TRP402ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_004292 | Disease | p.TRP481ARG | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_004311 | Polymorphism | p.TRP746CYS | N/A |
Swiss-Prot | VAR_029030 | Disease | p.TRP330GLY | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068631 | Disease | p.TRP746GLY | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068632 | Disease | p.TRP746SER | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_046467 | Disease | p.TYR191CYS | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_018081 | Disease | p.TYR292CYS | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068597 | Polymorphism | p.TYR458CYS | N/A |
Swiss-Prot | VAR_068609 | Disease | p.TYR575CYS | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_070019 | Disease | p.TYR766CYS | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_018089 | Disease | p.TYR455PHE | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_018093 | Disease | p.TYR575SER | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_004318 | Disease | p.VAL949ASP | Glycogen storage disease 2 (GSD2) |
Swiss-Prot | VAR_068586 | Polymorphism | p.VAL310GLY | N/A |
Swiss-Prot | VAR_068628 | Polymorphism | p.VAL718ILE | N/A |
dbSNP | rs1126690 | Polymorphism | p.VAL780ILE | N/A |
dbSNP | rs1800314 | Polymorphism | p.VAL816ILE | N/A |
Swiss-Prot | VAR_068572 | Polymorphism | p.VAL220LEU | N/A |
Swiss-Prot | VAR_068573 | Polymorphism | p.VAL222MET | N/A |
Swiss-Prot | VAR_068634 | Disease | p.VAL916PHE | Glycogen storage disease 2 (GSD2) |
OMIM | 606800.0016 | Disease | p.ALA237VAL | GLYCOGEN STORAGE DISEASE II, ADULT FORM |
OMIM | 606800.0015 | Disease | p.ARG854TER | GLYCOGEN STORAGE DISEASE II |
OMIM | 606800.0005 | Disease | p.ARG725TRP | GLYCOGEN STORAGE DISEASE II, ADULT FORM |
OMIM | 606800.0001 | Disease | p.ASP91ASN | ACID ALPHA-GLUCOSIDASE, ALLELE 2 |
OMIM | 606800.0010 | Disease | p.ASP645GLU | GLYCOGEN STORAGE DISEASE II, INFANTILE FORM |
OMIM | 606800.0003 | Disease | p.GLU521LYS | GLYCOGEN STORAGE DISEASE II, INFANTILE FORM |
OMIM | 606800.0011 | Disease | p.GLU689LYS | ACID ALPHA-GLUCOSIDASE, ALLELE 4 |
OMIM | 606800.0017 | Disease | p.GLY293ARG | GLYCOGEN STORAGE DISEASE II, ADULT FORM |
OMIM | 606800.0004 | Disease | p.GLY643ARG | GLYCOGEN STORAGE DISEASE II, ADULT FORM |
OMIM | 606800.0008 | Disease | p.LEU299ARG | GLYCOGEN STORAGE DISEASE II, INFANTILE FORM |
OMIM | 606800.0002 | Disease | p.MET318THR | GLYCOGEN STORAGE DISEASE II, INFANTILE FORM |
OMIM | 606800.0013 | Disease | p.PRO545LEU | GLYCOGEN STORAGE DISEASE II, ADULT FORM |
OMIM | 606800.0009 | Disease | p.SER529VAL | GLYCOGEN STORAGE DISEASE II, ADULT FORM |