Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
dbSNP | rs16990169 | Polymorphism | p.ARG2104CYS | N/A |
dbSNP | rs1800280 | Polymorphism | p.ARG2933GLN | N/A |
dbSNP | rs1801187 | Polymorphism | p.ARG1741HIS | N/A |
dbSNP | rs1800273 | Polymorphism | p.ARG2151TRP | N/A |
dbSNP | rs1800278 | Polymorphism | p.ASN2908ASP | N/A |
dbSNP | rs16990264 | Polymorphism | p.ASN1668LYS | N/A |
dbSNP | rs228406 | Polymorphism | p.ASP878GLY | N/A |
dbSNP | rs28715870 | Polymorphism | p.PHE1384VAL | N/A |
dbSNP | rs3827462 | Polymorphism | p.THR1132SER | N/A |
dbSNP | rs16998350 | Polymorphism | p.THR711SER | N/A |
OMIM | 300377.0033 | Disease | p.ALA164ASP | BECKER MUSCULAR DYSTROPHY |
OMIM | 300377.0070 | Disease | p.ALA3417VAL | BECKER MUSCULAR DYSTROPHY |
OMIM | 300377.0077 | Disease | p.ARG1310TER | BECKER MUSCULAR DYSTROPHY |
OMIM | 300377.0032 | Disease | p.ARG141TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0052 | Disease | p.ARG1963TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0054 | Disease | p.ARG2094TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0082 | Disease | p.ARG2901TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0005 | Disease | p.ARG2978TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0076 | Disease | p.ARG3186TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0007 | Disease | p.ARG3366TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0067 | Disease | p.ARG3377TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0062 | Disease | p.ASN2908ASP | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0026 | Disease | p.CYS3336TYR | DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG||B-WAVE |
OMIM | 300377.0048 | Disease | p.GLN1037TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0050 | Disease | p.GLN1401TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0051 | Disease | p.GLN1468TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0004 | Disease | p.GLN1847TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0055 | Disease | p.GLN2121TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0057 | Disease | p.GLN2260TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0014 | Disease | p.GLN2315TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0036 | Disease | p.GLN238TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0041 | Disease | p.GLN493TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0029 | Disease | p.GLN56TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0023 | Disease | p.GLN669TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0031 | Disease | p.GLN81TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0001 | Disease | p.GLU1153TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0037 | Disease | p.GLU246TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0060 | Disease | p.GLU2464TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0003 | Disease | p.GLU927TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0061 | Disease | p.GLU2906VAL | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0040 | Disease | p.GLY476TER | INTERMEDIATE MUSCULAR DYSTROPHY |
OMIM | 300377.0063 | Disease | p.HIS2917ARG | BECKER MUSCULAR DYSTROPHY |
OMIM | 300377.0020 | Disease | p.LEU50ARG | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0045 | Disease | p.LYS769GLU | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0044 | Disease | p.LYS766TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0064 | Disease | p.SER3062TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0073 | Disease | p.THR275ALA | CARDIOMYOPATHY, DILATED, 3B |
OMIM | 300377.0049 | Disease | p.TRP1059TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0043 | Disease | p.TRP647TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0035 | Disease | p.TYR227ASN | BECKER MUSCULAR DYSTROPHY |
OMIM | 300377.0084 | Disease | p.TYR1991TER | DUCHENNE MUSCULAR DYSTROPHY |