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Table 2 In silico analysis of the novel variants of MSH4

From: Novel bi-allelic MSH4 variants causes meiotic arrest and non-obstructive azoospermia

Patient No. Change in coding DNA (NM_001003811) Protein/RNA change Phenotype GnomAD minor allele frequency (%) ExAC Polyphen2 SIFT Mutation taster CADD
P9359 c.805_812del p.V269Qfs*15 MA NA NA NA NA NA NA
P9517 c.G1950A p.W650X MA 1.2 × 10−5 8.3 × 10−6 NA NA disease_causing_automatic NA
P9517 c.2179delG p.D727Mfs*11 MA NA NA NA NA NA NA
P9540 c.G244A p.G82S MA NA NA Benign Deleterious Deleterious NA
P9540 c.670delT p.L224Cfs*3 MA NA NA NA NA NA NA
P21504 c.2220_2223del p.K741Rfs*2 MA NA NA NA NA NA NA
  1. Abbreviations: MA Maturation Arrest, NA Not Available