Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
dbSNP | rs16990169 | Polymorphism | p.ARG2100CYS | N/A |
dbSNP | rs1800280 | Polymorphism | p.ARG2929GLN | N/A |
dbSNP | rs1801187 | Polymorphism | p.ARG1737HIS | N/A |
dbSNP | rs1800273 | Polymorphism | p.ARG2147TRP | N/A |
dbSNP | rs1800278 | Polymorphism | p.ASN2904ASP | N/A |
dbSNP | rs16990264 | Polymorphism | p.ASN1664LYS | N/A |
dbSNP | rs228406 | Polymorphism | p.ASP874GLY | N/A |
dbSNP | rs28715870 | Polymorphism | p.PHE1380VAL | N/A |
dbSNP | rs3827462 | Polymorphism | p.THR1128SER | N/A |
dbSNP | rs16998350 | Polymorphism | p.THR707SER | N/A |
OMIM | 300377.0033 | Disease | p.ALA160ASP | BECKER MUSCULAR DYSTROPHY |
OMIM | 300377.0070 | Disease | p.ALA3413VAL | BECKER MUSCULAR DYSTROPHY |
OMIM | 300377.0077 | Disease | p.ARG1306TER | BECKER MUSCULAR DYSTROPHY |
OMIM | 300377.0032 | Disease | p.ARG137TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0052 | Disease | p.ARG1959TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0054 | Disease | p.ARG2090TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0082 | Disease | p.ARG2897TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0005 | Disease | p.ARG2974TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0076 | Disease | p.ARG3182TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0007 | Disease | p.ARG3362TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0067 | Disease | p.ARG3373TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0062 | Disease | p.ASN2904ASP | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0026 | Disease | p.CYS3332TYR | DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG||B-WAVE |
OMIM | 300377.0048 | Disease | p.GLN1033TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0050 | Disease | p.GLN1397TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0051 | Disease | p.GLN1464TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0004 | Disease | p.GLN1843TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0055 | Disease | p.GLN2117TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0057 | Disease | p.GLN2256TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0014 | Disease | p.GLN2311TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0036 | Disease | p.GLN234TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0041 | Disease | p.GLN489TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0029 | Disease | p.GLN52TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0023 | Disease | p.GLN665TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0031 | Disease | p.GLN77TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0001 | Disease | p.GLU1149TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0037 | Disease | p.GLU242TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0060 | Disease | p.GLU2460TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0003 | Disease | p.GLU923TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0061 | Disease | p.GLU2902VAL | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0040 | Disease | p.GLY472TER | INTERMEDIATE MUSCULAR DYSTROPHY |
OMIM | 300377.0063 | Disease | p.HIS2913ARG | BECKER MUSCULAR DYSTROPHY |
OMIM | 300377.0020 | Disease | p.LEU46ARG | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0045 | Disease | p.LYS765GLU | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0044 | Disease | p.LYS762TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0064 | Disease | p.SER3058TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0073 | Disease | p.THR271ALA | CARDIOMYOPATHY, DILATED, 3B |
OMIM | 300377.0086 | Disease | p.TRP1TER | BECKER MUSCULAR DYSTROPHY |
OMIM | 300377.0049 | Disease | p.TRP1055TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0043 | Disease | p.TRP643TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0035 | Disease | p.TYR223ASN | BECKER MUSCULAR DYSTROPHY |
OMIM | 300377.0084 | Disease | p.TYR1987TER | DUCHENNE MUSCULAR DYSTROPHY |