Table 2.
Single-Allele Sequencing Results of Additional CDGs
| Disease (Mutations), Accession | Genotype | Category | Percentage | ||
|---|---|---|---|---|---|
| c.395 | c.430 | (n = 105) | |||
| PMM2-CDG (PMM2: c.[395T>C]; [430T>C]), dbSNP: rs150719105, rs80338702 | C | C | mut | 2.86 | |
| T∗ | T∗ | WT | 1.9 | ||
| C | T∗ | het | 46.67 | ||
| T∗ | C | het | 48.57 | ||
| Total non-parental | 4.76 | ||||
| c.1205 | c.1253 | (n = 121) | |||
| MPI-CDG (MPI: c.[1205A>G];[1253G>A]), ClinVar: SCV000256094, SCV000256095 | G | A | mut | 0 | |
| A∗ | G∗ | WT | 1.65 | ||
| A∗ | A | het | 48.76 | ||
| G | G∗ | het | 49.59 | ||
| Total non-parental | 1.65 | ||||
| c.211 | c.470 | (n = 135) | |||
| ALG3-CDG (ALG3: c.[211T>C];[470T>A]), dbSNP: rs119103237, rs119103238 | C | A | mut | 9.63 | |
| T∗ | T∗ | WT | 7.41 | ||
| T∗ | A | het | 49.63 | ||
| C | T∗ | het | 33.33 | ||
| Total non-parental | 17.04 | ||||
| c.301 | c.430 | (n = 102) | |||
| ALG12-CDG (ALG12: c.[301G>A];[430G>A]), dbSNP: rs121907933, rs121907932 | A | A | mut | 2.94 | |
| G∗ | G∗ | WT | 9.8 | ||
| G∗ | A | het | 50 | ||
| A | G∗ | het | 37.25 | ||
| Total non-parental | 12.74 | ||||
| c.509 | c.584 | (n = 115) | |||
| DPAGT1-CDG (DPAGT1: c.[509A>G];[584C>G]), dbSNP: rs28934876; ClinVar: SCV000256096 | G | G | mut | 2.61 | |
| A∗ | C∗ | WT | 0.87 | ||
| A∗ | G | het | 54.78 | ||
| G | C∗ | het | 41.74 | ||
| Total non-parental | 3.51 | ||||
| c.1037 | c.1187+1 | (n = 103) | |||
| ALG1-CDG (ALG1: c.[1037C>G];[1187+1G>A]), dbSNP: rs398124348, rs374928784 | G | A | mut | 4.85 | |
| C∗ | G∗ | WT | 86.41 | ||
| C∗ | A | het | 2.91 | ||
| G | G∗ | het | 5.83 | ||
| Total non-parental | 91.26 | ||||
Single-allele cloning and sequencing reveals non-parental genotypes in genomic DNA from cultured fibroblasts of multiple CDG-affected individuals. Allele genotypes are shown in the first two columns; the reference alleles are indicated by an asterisk. Each row represents a single allele and the frequency of this allele. SNV accession numbers are provided in respective order for each variant.