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Sequence variants detected by genotyping 162 patients with SCN in the North American SCNIR are summarized. Three cases with putative splice mutants [IVS4+5 G>A (2) and IVS3-8 (Exon4) C>A] are not included in this figure, because their effect on neutrophil elastase (NE) protein has not been experimentally validated. Multiple patients with the same mutation are indicated in parentheses. Novel variants are bolded.
