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Table 2 Overview of the PADI6 mutations identified in the affected individual

From: A novel homozygous mutation in the PADI6 gene causes early embryo arrest

Patient Genomic DNA position Exon cDNA change Protein change Exonic function 1000G ExAC ExAC_EAS MutationTaster ACMG classification
Proband Chr.1:17708465 6 c.558dupA p.Thr187Asnfs*48 Frameshift insertion NA N/A N/A N/A Pathogenic
(PVS1, PM2, PM4)
  1. 1000G, 1000 Genomes Project; ExAC, Exome Aggregation Consortium; EAS, East Asian; ACMG, American College of Medical Genetics and Genomics