CPA1 and pancreatitis: In our analysis of the exome data, we specifically examined genes associated with hematological and metabolic diseases, as well as those related to pancreatitis, including PRSS1, SPINK1, CFTR, CTRC, TRPV6, and CPA1. After filtering common (allele frequency of >5%) and non-coding variants, we found a heterozygous variant NM_003122.2: c.194 + 2T>C in intron 3 of SPINK1 gene (rs148954387), which may contribute to the development of AAP.