| Label | Id | |
|---|---|---|
| HADHA, ILE269ASN | GENE:OMIM | |
| HADHA, ARG255TER | GENE:OMIM | |
| GFI1, ASN382SER | GENE:OMIM | |
| GFI1, LYS403ARG | GENE:OMIM | |
| CSNK1D, THR44ALA | GENE:OMIM | |
| SDHA, ARG554TRP | GENE:OMIM | |
| SDHA, ALA524VAL | GENE:OMIM | |
| SDHA, MET1LEU | GENE:OMIM | |
| SDHA, GLY555GLU | GENE:OMIM | |
| CDKN1C, GLU47TER | GENE:OMIM | |
| CDKN1C, 1-BP DEL/2-BP INS, 1086T-AG | GENE:OMIM | |
| CDKN1C, 570CT-G | GENE:OMIM | |
| CDKN1C, SER247TER | GENE:OMIM | |
| P2RX1, 3-BP DEL, 1051CTG | GENE:OMIM | |
| SLC12A1, ASP648ASN | GENE:OMIM |