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MLH1ª c.518_519del; p.(Tyr173Trpfs*18) analysis. (a) NGS analysis of the colon adenocarcinoma showing the mutation in 80% of the reads. (b) NGS analysis of DNA isolated from blood showing the mutation in 13% of the reads. (c) Sanger sequencing of DNA isolated from blood confirming the presence of the MLH1 mutation (arrow indicates start of the deletion). ªOMIM 120436, NM_000249.3. NGS, next generation sequencing
