Table 2.

Study subject characteristics and summary of sequencing results for CDKN2A, CDK4, and exon 5 of GNAQ and GNA11.

Study Subject ID	Pedigree ID	Individual	Individual	Individual	Individual	Individual	Pedigree	Pedigree	Pedigree	Pedigree	Pedigree
		History of cutaneous melanoma	History of uveal melanoma	History of blue nevi	GNAQ exon 5 genotyping results	GNA11 exon 5 genotyping results	Number of cutaneous melanomas	Number of blue nevi	Number of uveal melanoma	CDKN2A genotyping results	CDK4 genotyping results
1	A	Yes	No	Yes	WT	WT	7	1	0	WT	WT
2	B	Yes	No	Yes	WT	WT	17	1	0	WT	WT
3	C	Yes	Yes	No	WT	WT	3	0	1	WT	WT
4	D	Yes	No	Yes	WT	WT	9	1	0	WT	WT
5	E	Yes	No	Yes	WT	WT	42	1	0	WT	WT
6	F	No	No	Yes	WT	WT	4	1	0	WT	WT
7	G	Yes	Yes	No	WT	WT	8	0	1	WT	WT
8	H	No	No	Yes	WT	WT	4	3	1	A148T G > A (p16)	WT
9	H	No	No	Yes	WT	WT	–	–	–	A148T G > A (p16)	WT
10	H	Yes	No	No	WT	WT	–	–	–	A148T G > A (p16)	WT
11	H	No	No	Yes	WT	WT	–	–	–	A148T G > A (p16)	WT
12	H	Yes	No	No	WT	WT	–	–	–	A148T G > A (p16)	WT
13	I	No	No	Yes	WT	WT	3	2	0	Not determined	Not determined
14	J	Yes	No	Yes	WT	WT	6	2	0	Not determined	Not determined
15	J	No	No	Yes	WT	WT	–	–	–	Not determined	Not determined
16	K	No	No	Yes	WT	WT	3	1	0	WT	WT
17	L	No	No	Yes	WT	WT	2	1	0	Not determined	Not determined
18	M	Yes	No	No	WT	WT	5	0	1	WT	WT
19	M	Yes	No	No	WT	WT	–	–	–	WT	WT
20	M	Yes	Yes	No	WT	WT	–	–	–	WT	WT
21	M	Yes	No	No	WT	WT	–	–	–	WT	WT
22	M	Yes	No	No	WT	WT	–	–	–	WT	WT

WT, wild-type.