| Label | Id | |
|---|---|---|
| CACNA1A, CYS287TYR | GENE:OMIM | |
| LEPR, IVS16, G-A, +1 | GENE:OMIM | |
| LEPR, LYS109ARG | GENE:OMIM | |
| LEPR, LYS656ASN | GENE:OMIM | |
| GSS, ARG164GLN | GENE:OMIM | |
| GSS, 1-BP DEL, NT3/4G | GENE:OMIM | |
| GSS, ARG267TRP | GENE:OMIM | |
| GSS, ARG283CYS | GENE:OMIM | |
| GSS, ARG125CYS | GENE:OMIM | |
| GSS, PRO314LEU AND 6-BP DEL, NT1137 | GENE:OMIM | |
| GSS, ASP219GLY | GENE:OMIM | |
| EPHB2, GLN723TER | GENE:OMIM | |
| EPHB2, ALA279SER | GENE:OMIM | |
| EPHB2, ASP679ASN | GENE:OMIM | |
| EPHB2, LYS1019TER | GENE:OMIM |