| Label | Id | |
|---|---|---|
| GUCY2D, GLU837ASP, ARG838CYS, AND THR839MET | GENE:OMIM | |
| GUCY2D, ARG838HIS | GENE:OMIM | |
| GUCY2D, 1-BP DEL, 2943G | GENE:OMIM | |
| JAK3, TYR100CYS | GENE:OMIM | |
| JAK3, 151-BP DEL | GENE:OMIM | |
| JAK3, 1-BP INS, 1172G | GENE:OMIM | |
| JAK3, CYS565TER | GENE:OMIM | |
| JAK3, ARG445TER | GENE:OMIM | |
| JAK3, ASP169GLU | GENE:OMIM | |
| JAK3, ALA58DEL | GENE:OMIM | |
| AQP3, IVS5, G-A, +1 | GENE:OMIM | |
| SCN5A, ARG1644HIS | GENE:OMIM | |
| SCN5A, ASN1325SER | GENE:OMIM | |
| SCN5A, ARG1232TRP AND THR1620MET | GENE:OMIM | |
| SCN5A, IVS7DS, 2-BP INS | GENE:OMIM |