Table 3.

Phenotypes and disease-causing mutations identified in patients not previously screened who were screened only by DHPLC.

SamplePhenotypeGenotype1Exon
1AMD2
2STGDG690V (2069G>T)14
5714 + 5G>A40
3STGDR653C (1957C>T)14
4STGD
5FFMY1652X (4956T>G)35
6STGD5714 + 5G>A40
6748delA49
7AMD
8STGD
9FFM250_251insCAAA3
10STGDP1380L (4139C>T)28
11STGD
12CD
13STGD5714 + 5G>A40
14STGDR18W (52C>T)1b
4466 + 3G>A30a
C1490Y (4469C>A)30b
15AMD
16STGDD498E (1494C>A)11
3970delG27
5714 + 5G>A40
17STGDQ2187P (6560A>G)48
W700X (2099G>A)14
18STGD
19AMDD1204N (3610G>A)25
20STGDR1108H (3323G>A)22
A1762D (5285C>A)37
21AMD
22STGD
23STGD4667 + 1G>A32
H1838N (5512C>A)39
24STGDR653C (1957C>T)14
25STGDK223Q (667A>C)6
S1071L (3212C>T)22
G1203R (3607G>A)24
26STGDG550R (1648G>A)12
27STGDA246T (736G>A)6
G1961E (5882G>A)42
28STGD
29STGD
30STGDY245X (735T>G)6