From: Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders
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
5
c.395 T > C
p.I132T
known
nonsynonymous