Table 2. Detected mutations and patient characteristics.

Patient no.	Age, years	Gender	Syndrome diagnosis	Genotyping
1	15	Male	PGL4	SDHB p.Arg90*
2	48	Male	VHL	VHL p.Tyr98His
3	26	Male	VHL	VHL p.Arg107Ser
4	66	Female	VHL	VHL p.Arg161Gln
5	11	Male	VHL	VHL p.Val170Gly
6	46	Male	VHL	VHL p.*214Gly
7	64	Female	-	EPAS1 p.Leu529Pro (S)
8	81	Female	-	EPAS1 p.Ala530Val (S)
9	27	Female	MEN2A	RET p.Cys609Ser
10	36	Female	MEN2A	RET p.Cys611Tyr
11	29	Female	MEN2A	RET p.Cys634Arg
12	29	Male	MEN2A	RET p.Cys634Gly
13	30	Female	MEN2A	RET p.Cys634Tyr
14	27	Female	MEN2A	RET p.Tyr791Phe
15	65	Male	MEN2A	RET p.Met804Val
16	34	Male	MEN2B	RET p.Met918Leu
17	18	Female	MEN2B	RET p.Met918Leu
18	50	Male	NF1	NF1 p.Arg1241*
19	44	Male	NF1	NF1 p.Trp2494*
20	57	Female	NF1	NF1 c.288+1G>T
21	56	Female	NF1	NF1 p.Lys1844*

Summary of patient characteristics, syndrome criteria and discovered genetic variants. PGL4; Familial Paraganglioma type 4, VHL; Von Hippel Lindau, MEN2; Multiple Endocrine Neoplasia Type 2; and NF1, Neurofibromatosis type 1. (S); Not detected in DNA from peripheral blood.

* indicates stop codon.