| Label | Id | |
|---|---|---|
| GDF5, CYS400TYR | GENE:OMIM | |
| GDF5, 1-BP INS, 297C | GENE:OMIM | |
| GDF5, LEU441PRO | GENE:OMIM | |
| GDF5, 23-BP INS, NT811 | GENE:OMIM | |
| GDF5, 1-BP DEL, 1144G | GENE:OMIM | |
| GDF5, MET173VAL | GENE:OMIM | |
| GDF5, 1-BP INS, 206G | GENE:OMIM | |
| GDF5, ARG438LEU | GENE:OMIM | |
| GDF5, 3-BP DEL, 1309TTG, SER439THR, AND HIS440LEU | GENE:OMIM | |
| GDF5, SER475ASN | GENE:OMIM | |
| GDF5, GLU491LYS | GENE:OMIM | |
| CSTB, IVS1, G-C, -1 | GENE:OMIM | |
| CSTB, ARG68TER | GENE:OMIM | |
| CSTB, (CCCCGCCCCGCG)n EXPANSION, 12-MER EXPANSION, PROMOTER REGION | GENE:OMIM | |
| CSTB, GLY4ARG | GENE:OMIM |