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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
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Reproductive Health

ISSN: 1742-4755