Table 2 Identified mutations
Gene | Exon | Nucleotide mutations | Allele state | Protein effect | dbSNP ID | Mutation type | Phenotype |
|---|---|---|---|---|---|---|---|
PMM2 | 3 | c.241-242del | het | p.L82Vfs*2 | novel | frameshift | congenital disorder of glycosylation |
PMM2 | 5 | c.395 T > C | het | p.I132T | known | nonsynonymous |