Table 2.
Frequent deleterious variants in type I disorders of glycosylation other than PMM2-glycosylation (CDG).
| Gene | Mutation | Accordance Among Classifiers | CADD Scaled Scores | Allele Frequency |
|---|---|---|---|---|
| ALG6 | p.Leu453Val | 10/11 | 23.6 | 0.012 |
| ALG3 | p.Val362Ile | 7/11 | 25.5 | 0.001 |
| MPDU1 | p.Ala229Thr | 3/11 | 20.9 | 0.154 |
| p.Gly225Ser | 4/11 | 24.1 | 0.010 | |
| ALG12 | p.Ile393Val | 7/11 | 23.4 | 0.112 |
| ALG8 | p.Arg268Gln | 11/11 | 35 | 0.014 |
| ALG2 | p.Pro56Leu | 10/11 | 24.2 | 0.001 |
| ALG1 | p.Thr64Asn | 7/11 | 24.7 | 0.003 |
| p.Ala3Asp | 3/11 | 22.6 | 0.001 | |
| ALG9 | p.Ser255Leu | 5/11 | 23.4 | 0.003 |
| RFT1 | p.Ala185Thr | 8/11 | 26.8 | 0.017 |
| p.Ser16Cys | 10/11 | 23.9 | 0.001 | |
| SRD5A3 | p.His309Asp | 7/11 | 15.91 | 0.004 |
| DDOST | p.Arg315Gln | 6/11 | 29.9 | 0.003 |
| p.Thr400Ile | 10/11 | 32 | 0.001 |