| Value | Code Name | Code | Code System | Code Description |
|---|---|---|---|---|
| Homozygous | Homozygous | Homozygous | ||
| Hemizygous | Hemizygous | Hemizygous | ||
| Heterozygous – two alleles identified | Heterozygous – two alleles identified | Heterozygous – two alleles identified | ||
| Heterozygous – only one allele identified | Heterozygous – only one allele identified | Heterozygous – only one allele identified | ||
| Digenic (mutations in more than one gene) | Digenic (mutations in more than one gene) | Digenic (mutations in more than one gene) | ||
| No mutation detected | No mutation detected | No mutation detected |