RET
Mutation
RET
exon
Families (n); GC (n)
RET
Mutation
RET
exon
Families (n); GC (n)
G321R
Exon 5
1; 4
K666N
Exon 11
1; 1
T338I
Exon 5
1;2
K666M
Exon 11
1; 8
A510V
Exon 8
1;1
S686N
Exon 11
1; 2
E511K
Exon 8
1;1
M700L
Exon 11
1; 1
C531R
Exon 8
1;1
R770Q
Exon 13
1; 3
G550E
Exon 9
1;1
N777S
Exon 13
1; 4
R600Q
Exon 10
1; 6
V778I
Exon 13
2; 6
K603Q
Exon 10
1; 3
Q781R
Exon 13
1; 1
Y606C
Exon 10
1;1
E805K
Exon 14
1; 1
E616Q
Exon 10
1;1
E818K
Exon 14
1; 1
F619F
Exon 10
1;1
S819I
Exon 14
1; 1
C620L
Exon 10
1;1
R833C
Exon 14
1; 1
E623K
Exon 10
1;1
P841L
Exon 14
1; 1
C630G
Exon 11
1;1
P841P
Exon 14
1; 1
C630S
Exon 11
1; 4
E843D
Exon 14
1; 1
D631V
Exon 11
2; 6
R844Q
Exon 14
1; 1
D631E
Exon 11
1; 1
R844L
Exon 14
1; 5
D631D
Exon 11
1; 3
A845A
Exon 14
1; 1
E632K
Exon 11
2; 2
M848T
Exon 14
1; 1
R635G
Exon 11
2; 2
L881V
Exon 15
1; 6
T636P
Exon 11
1; 3
R886W
Exon 15
1; 2
A640G
Exon 11
1; 1
S904C
Exon 15
1; 3
V648I
Exon 11
2; 5
S904F
Exon 15
1; 2
S649L
Exon 11
8; 15
R912Q
Exon 16
1; 10
H665Q
Exon 11
1; 4
M918V
Exon 16
1; 2
Table 1:
Germline RET point mutations of unknown significance; data derived from “ARUP, MEN 2 RET database, PUBMED and The Human Gene Mutation Database.