|
Family
|
Patients
|
RCC
|
CNS HB
|
Phaeo
|
RA
|
VHL disease type
|
germline mutation
|
localisation
|
novel mutation
|
Predicted protein modification
|
SIFT analysis
|
|---|
|
A
|
IP
|
15
|
-
|
-
|
15
|
1
|
c.163 G > T
|
exon 1
|
yes
|
p.Glu55X
|
NA
|
|
B
|
IP
|
-
|
48
|
-
|
48
|
1
|
c.232A > T
|
exon 1
|
yes
|
p.Asn78Tyr
|
damaging
|
| |
Brother
|
-
|
45
|
-
|
45
|
1
|
c.232A > T
|
exon 1
|
yes
|
p.Asn78Tyr
|
damaging
|
|
C
|
IP
| |
14
|
-
|
12
|
1
|
c.340 + 1 G > A
|
intron 1-2
|
no
|
p.Gly114AspfsX6
|
NA
|
| |
Father
|
34, bilateral
|
34
|
-
|
38
|
1
|
c.340 + 1 G > A
|
intron 1-2
|
no
|
p.Gly114AspfsX6
|
NA
|
|
D
|
IP
|
25
|
25
|
-
|
-
|
1
|
c.555C > A
|
exon 3
|
yes
|
p.Tyr185X
|
NA
|
|
E
|
IP
|
-
|
41
|
-
|
41
|
1
|
c.583C > T
|
exon 3
|
no
|
p.195GlnX
|
NA
|
- Numbers indicate patients’ age at detection of the corresponding VHL tumor. IP Index patient, RCC Clear cell renal cell carcinoma, CNS HB Central nervous system haemangioblastoma, Phaeo: phaeochromocytoma, RA Retinal angioma, NA Non-applicable.
