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Allele frequencies of SNVs around GAA IVS1. (A) Cartoon of the genomic region of GAA spanning exon 1–3. Primers used for allele-specific amplification of the IVS1 allele are highlighted in red (Supplementary Table S4). Exonic regions are highlighted as red boxes, and introns are indicated by lines. (B) List of 21 SNVs in GAA exons 1–3 with RS-numbers and allele frequencies (MAF was obtained from gnomAD: http://gnomad.broadinstitute.org/).
