| Label | Id | |
|---|---|---|
| DGUOK, 2-BP DEL, 609GT | GENE:OMIM | |
| DGUOK, ARG142LYS | GENE:OMIM | |
| DGUOK, GLU227LYS | GENE:OMIM | |
| CFL2, ALA35THR | GENE:OMIM | |
| ABCC9, 3-BP DEL, 4-BP INS, EX38 | GENE:OMIM | |
| ABCC9, ALA1513THR | GENE:OMIM | |
| OXCT1, SER283TER | GENE:OMIM | |
| OXCT1, CYS456PHE | GENE:OMIM | |
| OXCT1, THR58MET AND VAL133GLU | GENE:OMIM | |
| OXCT1, GLY324GLU | GENE:OMIM | |
| OXCT1, GLY219GLU | GENE:OMIM | |
| OXCT1, VAL221MET | GENE:OMIM | |
| SGCD, 1-BP DEL, 656C | GENE:OMIM | |
| SGCD, ARG165TER | GENE:OMIM | |
| SGCD, TRP30TER | GENE:OMIM |