Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_068919 | Disease | p.ARG216CYS | Tremor, hereditary essential 4 (ETM4) |
Swiss-Prot | VAR_068922 | Disease | p.ARG234CYS | Amyotrophic lateral sclerosis 6 (ALS6) |
Swiss-Prot | VAR_054837 | Disease | p.ARG244CYS | Amyotrophic lateral sclerosis 6 (ALS6) |
Swiss-Prot | VAR_054843 | Disease | p.ARG521CYS | Amyotrophic lateral sclerosis 6 (ALS6) |
Swiss-Prot | VAR_054838 | Disease | p.ARG514GLY | Amyotrophic lateral sclerosis 6 (ALS6) |
Swiss-Prot | VAR_054844 | Disease | p.ARG521GLY | Amyotrophic lateral sclerosis 6 (ALS6) |
Swiss-Prot | VAR_054846 | Disease | p.ARG522GLY | Amyotrophic lateral sclerosis 6 (ALS6) |
Swiss-Prot | VAR_054845 | Disease | p.ARG521HIS | Amyotrophic lateral sclerosis 6 (ALS6) |
Swiss-Prot | VAR_054842 | Disease | p.ARG518LYS | Amyotrophic lateral sclerosis 6 (ALS6) |
Swiss-Prot | VAR_054839 | Disease | p.ARG514SER | Amyotrophic lateral sclerosis 6 (ALS6) |
Swiss-Prot | VAR_054847 | Disease | p.ARG524SER | Amyotrophic lateral sclerosis 6 (ALS6) |
Swiss-Prot | VAR_054848 | Disease | p.ARG524THR | Amyotrophic lateral sclerosis 6 (ALS6) |
Swiss-Prot | VAR_068924 | Disease | p.GLY507ASP | Amyotrophic lateral sclerosis 6 (ALS6) |
Swiss-Prot | VAR_068921 | Disease | p.GLY230CYS | Amyotrophic lateral sclerosis 6 (ALS6) |
Swiss-Prot | VAR_054840 | Disease | p.GLY515CYS | Amyotrophic lateral sclerosis 6 (ALS6) |
Swiss-Prot | VAR_068918 | Disease | p.GLY191SER | Amyotrophic lateral sclerosis 6 (ALS6) |
Swiss-Prot | VAR_068920 | Disease | p.GLY225VAL | Amyotrophic lateral sclerosis 6 (ALS6) |
Swiss-Prot | VAR_054841 | Polymorphism | p.HIS517GLN | N/A |
Swiss-Prot | VAR_035481 | Polymorphism | p.LYS312GLN | N/A |
Swiss-Prot | VAR_065229 | Polymorphism | p.MET254VAL | N/A |
Swiss-Prot | VAR_068923 | Disease | p.PRO431LEU | Tremor, hereditary essential 4 (ETM4) |
Swiss-Prot | VAR_054849 | Disease | p.PRO525LEU | Amyotrophic lateral sclerosis 6 (ALS6) |
OMIM | 137070.0007 | Disease | p.ARG216CYS | AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA||TREMOR, HEREDITARY ESSENTIAL, 4, INCLUDED |
OMIM | 137070.0004 | Disease | p.ARG521CYS | AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA |
OMIM | 137070.0002 | Disease | p.ARG521GLY | AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA |
OMIM | 137070.0005 | Disease | p.ARG521HIS | AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA |
OMIM | 137070.0003 | Disease | p.ARG518LYS | AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA |
OMIM | 137070.0009 | Disease | p.ARG495TER | AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA |
OMIM | 137070.0008 | Disease | p.ARG524TRP | AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA |
OMIM | 137070.0011 | Disease | p.GLN290TER | TREMOR, HEREDITARY ESSENTIAL, 4 |
OMIM | 137070.0006 | Disease | p.GLY507ASP | AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA |
OMIM | 137070.0010 | Disease | p.GLY206SER | AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA |
OMIM | 137070.0001 | Disease | p.HIS517GLN | AMYOTROPHIC LATERAL SCLEROSIS 6, AUTOSOMAL RECESSIVE |
OMIM | 137070.0012 | Disease | p.PRO431LEU | TREMOR, HEREDITARY ESSENTIAL, 4 |