Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
dbSNP | rs16990169 | Polymorphism | p.ARG2108CYS | N/A |
dbSNP | rs1800280 | Polymorphism | p.ARG2937GLN | N/A |
dbSNP | rs1801187 | Polymorphism | p.ARG1745HIS | N/A |
dbSNP | rs1800273 | Polymorphism | p.ARG2155TRP | N/A |
dbSNP | rs1800278 | Polymorphism | p.ASN2912ASP | N/A |
dbSNP | rs16990264 | Polymorphism | p.ASN1672LYS | N/A |
dbSNP | rs228406 | Polymorphism | p.ASP882GLY | N/A |
dbSNP | rs28715870 | Polymorphism | p.PHE1388VAL | N/A |
dbSNP | rs3827462 | Polymorphism | p.THR1136SER | N/A |
dbSNP | rs16998350 | Polymorphism | p.THR715SER | N/A |
OMIM | 300377.0033 | Disease | p.ALA168ASP | BECKER MUSCULAR DYSTROPHY |
OMIM | 300377.0070 | Disease | p.ALA3421VAL | BECKER MUSCULAR DYSTROPHY |
OMIM | 300377.0077 | Disease | p.ARG1314TER | BECKER MUSCULAR DYSTROPHY |
OMIM | 300377.0032 | Disease | p.ARG145TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0052 | Disease | p.ARG1967TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0054 | Disease | p.ARG2098TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0082 | Disease | p.ARG2905TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0005 | Disease | p.ARG2982TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0076 | Disease | p.ARG3190TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0007 | Disease | p.ARG3370TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0067 | Disease | p.ARG3381TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0062 | Disease | p.ASN2912ASP | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0026 | Disease | p.CYS3340TYR | DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG||B-WAVE |
OMIM | 300377.0048 | Disease | p.GLN1041TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0050 | Disease | p.GLN1405TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0051 | Disease | p.GLN1472TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0004 | Disease | p.GLN1851TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0055 | Disease | p.GLN2125TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0057 | Disease | p.GLN2264TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0014 | Disease | p.GLN2319TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0036 | Disease | p.GLN242TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0041 | Disease | p.GLN497TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0029 | Disease | p.GLN60TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0023 | Disease | p.GLN673TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0031 | Disease | p.GLN85TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0001 | Disease | p.GLU1157TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0060 | Disease | p.GLU2468TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0037 | Disease | p.GLU250TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0003 | Disease | p.GLU931TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0061 | Disease | p.GLU2910VAL | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0040 | Disease | p.GLY480TER | INTERMEDIATE MUSCULAR DYSTROPHY |
OMIM | 300377.0063 | Disease | p.HIS2921ARG | BECKER MUSCULAR DYSTROPHY |
OMIM | 300377.0020 | Disease | p.LEU54ARG | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0045 | Disease | p.LYS773GLU | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0044 | Disease | p.LYS770TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0064 | Disease | p.SER3066TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0073 | Disease | p.THR279ALA | CARDIOMYOPATHY, DILATED, 3B |
OMIM | 300377.0049 | Disease | p.TRP1063TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0086 | Disease | p.TRP3TER | BECKER MUSCULAR DYSTROPHY |
OMIM | 300377.0043 | Disease | p.TRP651TER | DUCHENNE MUSCULAR DYSTROPHY |
OMIM | 300377.0035 | Disease | p.TYR231ASN | BECKER MUSCULAR DYSTROPHY |
OMIM | 300377.0084 | Disease | p.TYR1995TER | DUCHENNE MUSCULAR DYSTROPHY |