Patient ID | Deletions/ Duplications | No of Exons Deleted/ Duplicated | c MLPA probe ratio (Dosage quotient) | Clinical relevance |
---|---|---|---|---|
1 | Homozygous deletions | 2 (Exon 2 and 3) | 0.0 | Yes |
2 | Homozygous deletions | 2 (Exon 2 and 3) | 0.0 | Yes |
3a | Heterozygous deletion | 1 (Exon 1) | 0.5 | Yes |
4a | Heterozygous deletion | 1 (Exon 1) | 0.5 | Yes |
5b | Heterozygous duplication | 1 (Exon 1) | 1.3 | Yes |