Recurrent Germline Mutations of CHEK2 as a New Susceptibility Gene in Patients with Pheochromocytomas and Paragangliomas

Table 4

Detailed information of mutations and ACMG evaluation.

Patient	Location	Base change	Amino acid change	ACMG	Pathogenicity
1	Exon 2	c. 246_260del	p. 82_87del	PM2/PM4/PM6	Suspected pathogenic
2	Exon 6	c. G715A	p. E239K	PS1/PS3/PM1/PM6/PP3/PP5	Pathogenic
3	Intron 9	c. 1008+3A > T	—	PM1/PM2/PM6	Suspected pathogenic
4	Exon 11	c. C1111T	p. H371Y	PS3/PM1/PM6/PP3	Pathogenic