Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
dbSNP | rs16990169 | Polymorphism | p.ARG767CYS | N/A |
dbSNP | rs1800280 | Polymorphism | p.ARG1596GLN | N/A |
dbSNP | rs1801187 | Polymorphism | p.ARG404HIS | N/A |
dbSNP | rs1800273 | Polymorphism | p.ARG814TRP | N/A |
dbSNP | rs1800278 | Polymorphism | p.ASN1571ASP | N/A |
dbSNP | rs16990264 | Polymorphism | p.ASN331LYS | N/A |
dbSNP | rs28715870 | Polymorphism | p.PHE47VAL | N/A |
OMIM | 300377.0070 | Disease | p.ALA2080VAL | BECKER MUSCULAR DYSTROPHY |
OMIM | 300377.0082 | Disease | p.ARG1564TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0005 | Disease | p.ARG1641TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0076 | Disease | p.ARG1849TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0007 | Disease | p.ARG2029TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0067 | Disease | p.ARG2040TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0052 | Disease | p.ARG626TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0054 | Disease | p.ARG757TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0062 | Disease | p.ASN1571ASP | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0026 | Disease | p.CYS1999TYR | DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG||B-WAVE |
OMIM | 300377.0051 | Disease | p.GLN131TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0004 | Disease | p.GLN510TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0050 | Disease | p.GLN64TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0055 | Disease | p.GLN784TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0057 | Disease | p.GLN923TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0014 | Disease | p.GLN978TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0060 | Disease | p.GLU1127TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0061 | Disease | p.GLU1569VAL | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0063 | Disease | p.HIS1580ARG | BECKER MUSCULAR DYSTROPHY |
OMIM | 300377.0064 | Disease | p.SER1725TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0084 | Disease | p.TYR654TER | DUCHENNE MUSCULAR DYSTROPHY |