More than 2000 mutations have been identified since the discovery of the CFTR gene in 1989. However, only 346 mutations have been classified as cystic fibrosis (CF)‐causing mutations. Due to the increasing number of mutations and poor correlation between the genotype and phenotype, there is an urgent need to determine the mutations that are pathogenic, nonpathogenic, or lead to variable symptoms.

中文翻译：

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波兰人群中罕见的CFTR突变引起囊性纤维化的临床特征。

自1989年发现CFTR基因以来，已经鉴定出2000多个突变。但是，只有346个突变被归类为引起囊性纤维化（CF）的突变。由于突变数量的增加以及基因型和表型之间的相关性较差，因此迫切需要确定是致病性，非致病性或导致可变症状的突变。