Table 2.

Genotypes and phenotypes of patients screened retrospectively for DHPLC validation, previously analyzed by DG-DGGE.1

SampleGenotype2Exon
ANo mutation found
BR2030Q (6089G>A)344
CG1050D (3149G>A)21
6817–1G>A350
DG978D (2933G>A)20
T1526M (4577C>T)31
ET1526M (4577C>T)31
A1598D (4793C>A)34
FG1961E (5882G>A)42
GP1512R (4535C>G)30b
HW821R (2461T>A)16
V767D (2300T>A)315
IW821R (2461T>A)16
J1dY1652X (4956T>G)35
J2dR2149T (6446G>T)47
K1d1358-8delTT11
K2dG1961E (5882G>A)42
L250_251insCAAA3
D108V (323A>T)34
MNo mutation found
NY954D (2860T>G)19
G1050D (3149G>A)21
OR212H (635G>A)6
T230S (688T>A)6
E1022K (3064G>A)21
P5018 + 2T>C35
QY954D (2860T>G)19
RN96K (288C>A)3
A1598D (4793C>A)34
SNo mutation found
TT2253A (6757A>C)49
6730-10del949
UQ876X (2626C>T)17
VNo mutation found
Z5714 + 5G>A40
R1108C (3322C>T)22