Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_062346 | Disease | p.ARG148CYS | GM1-gangliosidosis 3 (GM1G3) |
Swiss-Prot | VAR_003332 | Disease | p.ARG201CYS | GM1-gangliosidosis 2 (GM1G2) |
Swiss-Prot | VAR_008676 | Disease | p.ARG208CYS | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_008678 | Disease | p.ARG482CYS | Mucopolysaccharidosis 4B (MPS4B) |
Swiss-Prot | VAR_003329 | Disease | p.ARG49CYS | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_008680 | Polymorphism | p.ARG521CYS | N/A |
Swiss-Prot | VAR_026129 | Disease | p.ARG59CYS | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_037946 | Disease | p.ARG590CYS | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_062367 | Disease | p.ARG442GLN | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_003335 | Disease | p.ARG457GLN | GM1-gangliosidosis 3 (GM1G3) |
Swiss-Prot | VAR_062341 | Disease | p.ARG68GLN | GM1-gangliosidosis 2 (GM1G2) |
Swiss-Prot | VAR_013542 | Disease | p.ARG201HIS | GM1-gangliosidosis 2 (GM1G2) |
Swiss-Prot | VAR_003336 | Disease | p.ARG482HIS | Mucopolysaccharidosis 4B (MPS4B) |
Swiss-Prot | VAR_062340 | Disease | p.ARG49HIS | GM1-gangliosidosis 3 (GM1G3) |
Swiss-Prot | VAR_008672 | Disease | p.ARG59HIS | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_008683 | Disease | p.ARG590HIS | GM1-gangliosidosis 2 (GM1G2) |
Swiss-Prot | VAR_008675 | Disease | p.ARG121SER | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_013541 | Disease | p.ARG148SER | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_053875 | Polymorphism | p.ARG109TRP | N/A |
Swiss-Prot | VAR_037947 | Polymorphism | p.ARG595TRP | N/A |
Swiss-Prot | VAR_026130 | Disease | p.ARG68TRP | GM1-gangliosidosis 2 (GM1G2) |
Swiss-Prot | VAR_062356 | Polymorphism | p.ASN318HIS | N/A |
Swiss-Prot | VAR_013552 | Disease | p.ASN484LYS | Mucopolysaccharidosis 4B (MPS4B) |
Swiss-Prot | VAR_013546 | Disease | p.ASN266SER | GM1-gangliosidosis 3 (GM1G3) |
Swiss-Prot | VAR_013549 | Disease | p.ASP332ASN | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_062366 | Disease | p.ASP441ASN | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_008679 | Disease | p.ASP491ASN | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_062358 | Disease | p.ASP332GLU | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_026131 | Disease | p.ASP151TYR | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_062352 | Disease | p.ASP198TYR | Mucopolysaccharidosis 4B (MPS4B) |
Swiss-Prot | VAR_013543 | Disease | p.ASP214TYR | GM1-gangliosidosis 3 (GM1G3) |
Swiss-Prot | VAR_037943 | Disease | p.ASP491TYR | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_062348 | Disease | p.ASP151VAL | GM1-gangliosidosis 1 (GM1G1) |
dbSNP | rs4302331 | Polymorphism | p.CYS521ARG | N/A |
Swiss-Prot | VAR_062350 | Disease | p.GLN184ARG | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_062354 | Disease | p.GLN255HIS | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_013550 | Disease | p.GLN408PRO | Mucopolysaccharidosis 4B (MPS4B) |
Swiss-Prot | VAR_008686 | Disease | p.GLU632GLY | GM1-gangliosidosis 2 (GM1G2) |
Swiss-Prot | VAR_003331 | Disease | p.GLY123ARG | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_062351 | Disease | p.GLY190ASP | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_038346 | Disease | p.GLY272ASP | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_013555 | Disease | p.GLY579ASP | GM1-gangliosidosis 2 (GM1G2) |
Swiss-Prot | VAR_013553 | Disease | p.GLY494CYS | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_013551 | Disease | p.GLY438GLU | Mucopolysaccharidosis 4B (MPS4B) |
Swiss-Prot | VAR_037945 | Polymorphism | p.GLY554GLU | N/A |
Swiss-Prot | VAR_062369 | Disease | p.GLY494SER | Mucopolysaccharidosis 4B (MPS4B) |
Swiss-Prot | VAR_037937 | Disease | p.GLY134VAL | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_013548 | Disease | p.HIS281TYR | GM1-gangliosidosis 3 (GM1G3) |
Swiss-Prot | VAR_003330 | Disease | p.ILE51THR | GM1-gangliosidosis 3 (GM1G3) |
Swiss-Prot | VAR_037939 | Disease | p.LEU155ARG | GM1-gangliosidosis 3 (GM1G3) |
Swiss-Prot | VAR_062365 | Disease | p.LEU422ARG | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_026133 | Polymorphism | p.LEU436PHE | N/A |
Swiss-Prot | VAR_062349 | Disease | p.LEU173PRO | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_037940 | Disease | p.LEU162SER | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_062355 | Disease | p.LEU264SER | GM1-gangliosidosis 2 (GM1G2) |
Swiss-Prot | VAR_008682 | Disease | p.LYS578ARG | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_062360 | Disease | p.LYS346ASN | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_062342 | Disease | p.LYS73GLU | GM1-gangliosidosis 3 (GM1G3) |
Swiss-Prot | VAR_062344 | Disease | p.MET132THR | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_062362 | Disease | p.PRO397ALA | Mucopolysaccharidosis 4B (MPS4B) |
dbSNP | rs7637099 | Disease | p.PRO10LEU | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_037944 | Disease | p.PRO549LEU | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_062345 | Disease | p.PRO136SER | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_013545 | Disease | p.PRO263SER | GM1-gangliosidosis 3 (GM1G3) |
Swiss-Prot | VAR_062370 | Disease | p.PRO597SER | GM1-gangliosidosis 1 (GM1G1) |
dbSNP | rs73826339 | Polymorphism | p.SER532CYS | N/A |
Swiss-Prot | VAR_008681 | Polymorphism | p.SER532GLY | N/A |
Swiss-Prot | VAR_037942 | Polymorphism | p.SER434LEU | N/A |
Swiss-Prot | VAR_062347 | Disease | p.SER149PHE | Mucopolysaccharidosis 4B (MPS4B) |
Swiss-Prot | VAR_013554 | Disease | p.THR500ALA | Mucopolysaccharidosis 4B (MPS4B) |
Swiss-Prot | VAR_062357 | Disease | p.THR329ILE | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_062363 | Disease | p.THR420LYS | GM1-gangliosidosis 3 (GM1G3) |
Swiss-Prot | VAR_026132 | Disease | p.THR239MET | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_008673 | Disease | p.THR82MET | GM1-gangliosidosis 3 (GM1G3) |
Swiss-Prot | VAR_062364 | Disease | p.THR420PRO | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_003337 | Disease | p.TRP509CYS | Mucopolysaccharidosis 4B (MPS4B) |
Swiss-Prot | VAR_003333 | Disease | p.TRP273LEU | Mucopolysaccharidosis 4B (MPS4B) |
Swiss-Prot | VAR_008685 | Disease | p.TYR591ASN | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_013547 | Disease | p.TYR270ASP | GM1-gangliosidosis 3 (GM1G3) |
Swiss-Prot | VAR_062353 | Disease | p.TYR199CYS | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_003334 | Disease | p.TYR316CYS | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_062361 | Disease | p.TYR347CYS | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_062368 | Disease | p.TYR444CYS | Mucopolysaccharidosis 4B (MPS4B) |
Swiss-Prot | VAR_008684 | Disease | p.TYR591CYS | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_062343 | Disease | p.TYR83CYS | Mucopolysaccharidosis 4B (MPS4B) |
Swiss-Prot | VAR_062359 | Disease | p.TYR333HIS | GM1-gangliosidosis 2 (GM1G2) |
Swiss-Prot | VAR_008674 | Disease | p.TYR83HIS | Mucopolysaccharidosis 4B (MPS4B) |
Swiss-Prot | VAR_013544 | Disease | p.VAL216ALA | GM1-gangliosidosis 1 (GM1G1) |
Swiss-Prot | VAR_008677 | Disease | p.VAL240MET | GM1-gangliosidosis 1 (GM1G1) |
OMIM | 611458.0003 | Disease | p.ARG201CYS | GM1-GANGLIOSIDOSIS, TYPE II |
OMIM | 611458.0017 | Disease | p.ARG208CYS | GM1-GANGLIOSIDOSIS, TYPE I |
OMIM | 611458.0016 | Disease | p.ARG482CYS | MUCOPOLYSACCHARIDOSIS TYPE IVB |
OMIM | 611458.0001 | Disease | p.ARG49CYS | GM1-GANGLIOSIDOSIS, TYPE I |
OMIM | 611458.0008 | Disease | p.ARG457GLN | GM1-GANGLIOSIDOSIS, TYPE III |
OMIM | 611458.0010 | Disease | p.ARG482HIS | MUCOPOLYSACCHARIDOSIS TYPE IVB||GM1-GANGLIOSIDOSIS, TYPE I, INCLUDED |
OMIM | 611458.0023 | Disease | p.ARG59HIS | GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT||GM1-GANGLIOSIDOSIS, TYPE I, INCLUDED |
OMIM | 611458.0019 | Disease | p.ARG351TER | GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT |
OMIM | 611458.0002 | Disease | p.ARG457TER | GM1-GANGLIOSIDOSIS, TYPE I |
OMIM | 611458.0022 | Disease | p.ARG68TRP | GM1-GANGLIOSIDOSIS, TYPE II |
OMIM | 611458.0021 | Disease | p.GLN408PRO | MUCOPOLYSACCHARIDOSIS TYPE IVB |
OMIM | 611458.0006 | Disease | p.GLY123ARG | GM1-GANGLIOSIDOSIS, TYPE I |
OMIM | 611458.0018 | Disease | p.GLY438GLU | MUCOPOLYSACCHARIDOSIS TYPE IVB |
OMIM | 611458.0004 | Disease | p.ILE51THR | GM1-GANGLIOSIDOSIS, TYPE III |
OMIM | 611458.0020 | Disease | p.THR500ALA | MUCOPOLYSACCHARIDOSIS TYPE IVB |
OMIM | 611458.0013 | Disease | p.THR82MET | GM1-GANGLIOSIDOSIS, TYPE III |
OMIM | 611458.0011 | Disease | p.TRP509CYS | MUCOPOLYSACCHARIDOSIS TYPE IVB |
OMIM | 611458.0009 | Disease | p.TRP273LEU | MUCOPOLYSACCHARIDOSIS TYPE IVB |
OMIM | 611458.0025 | Disease | p.TYR591ASN | GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT |
OMIM | 611458.0007 | Disease | p.TYR316CYS | GM1-GANGLIOSIDOSIS, TYPE I |
OMIM | 611458.0026 | Disease | p.TYR591CYS | GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT |
OMIM | 611458.0015 | Disease | p.TYR83HIS | MUCOPOLYSACCHARIDOSIS TYPE IVB |