Table 1. Clinical exome sequencing report.

OMIM: Online Mendelian Inheritance in Man database

Gene (Transcript)	Location	Variant	Zygosity	Disease (OMIM)	Inheritance	Classification
CFTR(+) (ENST00000003084.6)	Exon 8	c.1029del (p.Cyd343Ter)	Homozygous	Cystic fibrosis	Autosomal recessive	Pathogenic