Research Article
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 |
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