Table 1.

Germline mutation status of the von Hippel–Lindau gene of patients with an ophthalmologic examination (n = 36).

Pedigrees	Mutation	Expected pVHL change	Individuals with RH development	Individuals without RH development
1	Partial deletion	Deletion of exon 1 and 2	1	0
2	Partial deletion	Deletion of exon 1 and 2	1	0
3	Deletion	p.(Phe76del)	1	0
4	Missense	p.(Asn78Ser)	1	0
5	Indel	Deletion of exon 2	4	1
6	Deletion	Deletion of exon 2	1	0
7	Missense	p.(Val130Phe)	5	1
8	Splice site	Deletion exon 3	1	0
9	Frameshift	p.(Lys159Glufs*15)	5	3
10	Complete deletion	VHL gene deletion	1	2
11	Missense	p.(Arg167Gln)	0	2
12	Missense	p.(Ile151Ser)	0	1
13	Missense	p.(Leu89Pro)	0	1
14	Missense	p.(Arg64Pro)	0	2
15	Complete deletion	VHL gene deletion	0	2

Arg = arginine, Asn = asparagine, del = deletion, fs = frameshift, Gln = glutamine, Glu = glutamic acid, Ile = isoleucine, Leu = leucine, Lys = Lysine, Phe = phenyalanine, Pro = proline, pVHL = von Hippel–Lindau protein, RH = retinal haemangioblastoma, Ser = Serine, Val = valine, VHL = von Hippel–Lindau.