Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
dbSNP | rs16990169 | Polymorphism | p.ARG764CYS | N/A |
dbSNP | rs1800280 | Polymorphism | p.ARG1593GLN | N/A |
dbSNP | rs1801187 | Polymorphism | p.ARG401HIS | N/A |
dbSNP | rs1800273 | Polymorphism | p.ARG811TRP | N/A |
dbSNP | rs1800278 | Polymorphism | p.ASN1568ASP | N/A |
dbSNP | rs16990264 | Polymorphism | p.ASN328LYS | N/A |
dbSNP | rs28715870 | Polymorphism | p.PHE44VAL | N/A |
OMIM | 300377.0070 | Disease | p.ALA2077VAL | BECKER MUSCULAR DYSTROPHY |
OMIM | 300377.0082 | Disease | p.ARG1561TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0005 | Disease | p.ARG1638TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0076 | Disease | p.ARG1846TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0007 | Disease | p.ARG2026TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0067 | Disease | p.ARG2037TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0052 | Disease | p.ARG623TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0054 | Disease | p.ARG754TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0062 | Disease | p.ASN1568ASP | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0026 | Disease | p.CYS1996TYR | DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG||B-WAVE |
OMIM | 300377.0051 | Disease | p.GLN128TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0004 | Disease | p.GLN507TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0050 | Disease | p.GLN61TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0055 | Disease | p.GLN781TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0057 | Disease | p.GLN920TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0014 | Disease | p.GLN975TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0060 | Disease | p.GLU1124TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0061 | Disease | p.GLU1566VAL | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0063 | Disease | p.HIS1577ARG | BECKER MUSCULAR DYSTROPHY |
OMIM | 300377.0064 | Disease | p.SER1722TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0084 | Disease | p.TYR651TER | DUCHENNE MUSCULAR DYSTROPHY |