Illustration from Scientific Research

Pedigrees for the three probands in the 100KGP (discovery cohort) heterozygous for the frameshift insertion predicting p.S209Qfs*3 and probands from replication cohorts, including one from the 100KGP Pilot Programme heterozygous for the frameshift deletion predicting p.S209Afs*61, three of Japanese ancestry heterozygous for p.S209Qfs*3 and one Belgian pedigree heterozygous for a frameshift deletion encoding p.P207Qfs*3. All variant consequences are shown with respect to the canonical transcript of PMEPA1 , ENST00000341744.8.

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