Birt-Hogg-Dubé syndrome - a rare genetic disorder complicated by pneumothorax: A case report

Table 1 Patient family genetic testing results

	Gene	Chromosomal location	Reference transcript	Location	cDNA level	Protein level	Status	Mutation classification
A	FLCN	17p11.2	NM-144997.6	Exon11	c.1285delC	p.(His429fs)	Hybrid	Pathogenic mutation
B	FLCN	17p11.2	NM-144997.6	Exon11	c.1285delC	p.(His429fs)	Hybrid	Pathogenic mutation
C	FLCN	17p11.2	NM-144997.6	Exon11	c.1285delC	p.(His429fs)	Hybrid	Pathogenic mutation

Project name: Family testing for genetic diseases through whole exome sequencing (Trio). A: Patient; B: Mother; C: Sister.