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Gene detections of the patient and his parents
| Gene detection | Gene | Exon | Genome coordinates | Nucleotide change | AA change | Hom/Hct/Hem | References |
|---|---|---|---|---|---|---|---|
| The patient | CBS | Exon8 | chr21:44485352 | c.697 T > G | p.Tyr233Asp | Hct | – |
| CBS | Exon6 | chr21:44485755 | c.502G > A | p.Val168Met | Hct | 16 | |
| The parents | Mother of the patient | c.697 T > G | |||||
| Father of the patient | c.502G > A | ||||||
