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Table 4 Genetic sequencing results of the proband and her brother

From: Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report

Nucleotide changes Gene subregion Homozygous/heterozygous Amino acid change Pathogenicity analysis Mutation source
c.518T>A CDS4 homozygous p.I173N pathogenicity patrents
c.1451-1452delGGinsC CDS10 heterozygous p.R484Pfs*58 possibly pathogenicity mother
  1. Sibling sequencing results are identical