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. 2018 Nov;20(6):789–801. doi: 10.1016/j.jmoldx.2018.06.005

Figure 4.

Figure 4

Visualization of category 3 example, PAX3. A: Transcript view of the PAX3 gene. PAX3 has eight reference sequence transcripts; a transcript can include 4, 5, 8, 9, or 10 exons. B: A close-up of the putative loss-of-function variant (c.638C>A; p.S213*) in exon 4D of the NM_000438.5 transcript, which was found in 0.54% (166/30,592) South Asian alleles in the Genome Aggregation Database, including one homozygous individual. C: A close-up of the two uncertain exons in PAX3: 9A (NM_181459.3) and 8C (NM_181460.3).