Table 2.
Sanger sequencing chromatogram.
| Sanger sequencing validation results | |||||
|---|---|---|---|---|---|
| Validation of variant locus information | Relationship | Validation results | |||
| MMACHC chr1:45974605 Exon:4/4 NM_015506.3: c.567dup (p.Ile190Tyrfs*13) |
proband | heterozygous duplication | |||
| father | wild-type | ||||
| mother | heterozygous duplication | ||||
| MMACHC chr1:45974647 Exon:4/4 NM_015506.3: c.609G>A (p.Trp203*) |
proband | heterozygous | |||
| father | heterozygous | ||||
| mother | wild-type | ||||
| Chromatogram verification results | |||||
| Gene | MMACHC | Genomic coordinate | chr1:45974605 | Variant information | c.567dup (p.Ile190Tyrfs*13) |
| Proband, Forward Sequencing Heterozygous Duplication |
|
||||
| Proband, Reverse Sequencing Heterozygous Duplication |
|
||||
| Father, Forward Sequencing Wild-type |
|
||||
| Mother, Forward Sequencing Heterozygous Duplication |
|
||||
| Chromatogram verification results | |||||
| Gene | MMACHC | Genomic coordinate | chr1:45974647 | Variant information | c.609G>A (p.Trp203*) |
| Proband, Reverse Sequencing Heterozygous |
|
||||
| Father, Reverse Sequencing Heterozygous |
|
||||
| Mother, Reverse Sequencing Wild-type |
|
||||