| Label | Id | |
|---|---|---|
| SMN1, ASP30ASN | GENE:OMIM | |
| SMN1, ASP44VAL | GENE:OMIM | |
| SMN1, GLY95ARG | GENE:OMIM | |
| SMN1, ALA111GLY | GENE:OMIM | |
| SMN1, SER262GLY | GENE:OMIM | |
| SMN1, ILE116PHE | GENE:OMIM | |
| SMN1, GLN136GLU | GENE:OMIM | |
| RGR, SER66ARG | GENE:OMIM | |
| RGR, 1-BP INS | GENE:OMIM | |
| COMP, ASP472TYR | GENE:OMIM | |
| COMP, CYS468TYR | GENE:OMIM | |
| COMP, 3-BP DEL, 459TCA, SER459DEL | GENE:OMIM | |
| COMP, ASP342TYR | GENE:OMIM | |
| COMP, CYS328ARG | GENE:OMIM | |
| ACADSB, 1228G-A, EX10DEL | GENE:OMIM |