Table 1. Germline mutations and clinical characteristics of patients with PPGL at six university hospitals.

Cluster	Gene	No. case	Sex	Age at diagnosis (yrs)	Family history	Clinical diagnosis	Tumorlocation	Tumor size(max, cm)	Multiple tumors	Metastasis	Recurrence	Biochemical status	Othertumors	cDNA change	Amino acid change	ACMG interpretation	Consequence	ClinVar accession
Cluster 1. Pseudohypoxia (TCA cycle-related)	SDHD	1	F	44	Yes	PCC/PGL	Rt adrenal, carotid body	2.0	Mu	No	Yes	Nor		NM_003002.3(SDHD):c.119delT	p.Ile40ThrfsTer46	P	Frameshift	Not reported
Cluster 1. Pseudohypoxia (VHL/EPAS-1-related)	VHL	2	M	16	No	PCC	Both adrenal	4.0	Mu	No	No	Nor		NM_000551.3(VHL):c.208G>A	p.Glu70Lys	P	Missense	VCV000043598.16
	VHL	3	F	49	No	PGL	Retroperitoneum	3.5	S	No	No	Nor	Lymphoma	NM_000551.3(VHL):c.242C>T	p.Pro81Leu	LP	Missense	VCV000036899.24
	VHL	4	F	55	No	PCC	Lt adrenal	7.5	S	No	No	Nor		NM_000551.3(VHL):c.499C>T	p.Arg167Trp	P	Missense	VCV000002218.31
	VHL	5	M	70	Yes	PCC	Lt adrenal	2.6	Mu	Yes (bladder)	No	Nor		NM_000551.3(VHL):c.640T>A	p.*214Argext*14	LP	Stop lost	VCV000801933.6
Cluster 2. Kinase signaling	NF1	6	M	35	No	PCC	Rt adrenal	4.5	S	No	No	Nor	NF1	NM_001042492.2(NF1):c.6596del	p.Leu2199Ter	P	Nonsense	Not reported
	NF1	7	F	56	No	PCC	Lt adrenal	1.6	S	No	No	Nor	NF1	NM_001042492.2(NF1):c.1748A>G	p.Lys583Arg	P	Missense	VCV000068306.21
	NF1	8	M	66	No	PCC	Rt adrenal	4.3	S	No	No	Adr/Nor	NF1	NM_001042492.2(NF1):c.4800dup	p.Ala1601SerfsTer21	P	Frameshift	Not reported
	NF1	9	M	40	No	PCC	Lt adrenal	6.0	S	No	Yes	Adr/Nor	NF1	NM_001042492.2(NF1):c.7869+1G>A	p?	P	Splice donor	VCV000480091.8
	RET	10	F	64	Yes	PCC	Both adrenal	4.6	Mu	No	No	Adr/Nor		NM_020975.4(RET):c.1891G>T	p.Asp631Tyr	P	Missense	VCV000024914.9
	RET	11	F	41	No	PCC	Lt adrenal	6.0	S	No	Yes	Adr/Nor	MTC	NM_020975.4(RET):c.1902C>G	p.Cys634Trp	P	Missense	VCV000013918.19
	RET	12	F	52	No	PCC	Lt adrenal	6.5	S	No	No	Adr/Nor	MTC	NM_020975.4(RET):c.1902C>G	p.Cys634Trp	P	Missense	VCV000013918.19
	RET	13	F	54	Yes	PCC	Rt adrenal	2.8	S	No	No	Adr/Nor	MTC	NM_020975.4(RET):c.1902C>G	p.Cys634Trp	P	Missense	VCV000013918.19

Abbreviations: PPGL, pheochromocytoma and paraganglioma; F, female; M, male; PCC, pheochromocytoma; PGL, paraganglioma; Rt, right; Lt, left; S, single; Mu, multiple; Nor, noradrenergic; Adr, adrenergic; NF1, neurofibromatosis type 1; MTC, medullary thyroid carcinoma; P, pathogenic; LP, likely pathogenic