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Figure S1a. Electropherogram representing fluorescent dinucleotide microsatellite PCR products (D5S346) amplified from DNA extracted from a normal individual; this marker was rejected due to interfering peaks at ±1 nt size (shown by arrows). b. an example of a mononucleotide repeat (BAT25) amplified from a patient with a homozygous PMS2 mutation p.R802X/R802X. Mononucleotides were rejected from further analysis as in patients with germline microsatellite instability it was found to be difficult to identify the primary peaks with certainty. Labeled in red are four peaks, which may reflect the underlying genotype; the degree of instability or stutter is too great for quantitative analysis.

Table S1. Primer sequences

Table S2. Table of gMSI ratio thresholds

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