Table 1

Mutations subject to blinded analysis by SSCP, CSGE, TDGS, and DHPLC

Mutation name	Exon	Base change	Mutation type	Mutation effect
187delAG	2	Del AG	Frameshift	Premature stop
M1I (122G>T)	2	122 G>T	Missense	Missense
C64Y	5	310 G>A	Missense	Missense
C61G	5	300 T>G	Missense	Missense
IVS5-11T>G	6	4795-11T>G	Splice	Splice
E143X	7	546 G>T	Nonsense	Nonsense
525insA	7	Ins A	Frameshift	Premature stop
Y179C^1-150	8	655 A>G	Missense	Indeterminate
639delC	8	Del C	Frameshift	Premature stop
IVS8+1G>T	8	666+1 G>T	Splice	Splice
1629delC	11	Del C	Frameshift	Premature stop
2576delC	11	Del C	Frameshift	Premature stop
K679X	11	2154 A>T	Nonsense	Nonsense
L246V^1-150	11	855 T>G	Missense	Indeterminate
F486L^1-150	11	1575 T>C	Missense	Indeterminate
N550H^1-150	11	1767 A>C	Missense	Indeterminate
E1222X	11	3783 G>T	Nonsense	Nonsense
E1134X	11	3519 G>T	Nonsense	Nonsense
Q1111X	11	3450 C>T	Nonsense	Nonsense
Q957X	11	2988 C>T	Nonsense	Nonsense
3600del11	11	Del GAAGATACTAG	Frameshift	Premature stop
1294del40	11	Del 40	Frameshift	Premature stop
V772A^1-150	11	2434 T>C	Missense	Indeterminate
E1250X	11	3867 G>T	Nonsense	Nonsense
Q780X	11	2457 C>T	Nonsense	Nonsense
L668F^1-150	11	2121 C>T	Missense	Indeterminate
2322delC	11	Del C	Frameshift	Premature stop
3347delAG	11	Del AG	Frameshift	Premature stop
E908X	11	2841 G>T	Nonsense	Nonsense
2072del4	11	Del GAAA	Frameshift	Premature stop
2080delA	11	Del A	Frameshift	Premature stop
W321X	11	1081 G>A	Nonsense	Nonsense
2594delC	11	Del C	Frameshift	Premature stop
3171ins5	11	Ins TGAGA	Frameshift	Premature stop
3829delT	11	Del T	Frameshift	Premature stop
3875del4	11	Del GCTC	Frameshift	Premature stop
4154delA	11	Del A	Frameshift	Premature stop
Q563X	11	1806 C>T	Nonsense	Nonsense
Q1240X	11	3837 C>T	Nonsense	Nonsense
2190delA	11	Del A	Frameshift	Premature stop
Q1395X	12	4302 C>T	Nonsense	Nonsense
H1402Y^1-150	13	4323 C>T	Missense	Indeterminate
Y1463X	14	4508 C>A	Nonsense	Nonsense
4510del3insTT	14	Del CTA Ins TT	Frameshift	Premature stop
W1508X	15	4643 G>A	Nonsense	Nonsense
P1637L^1-150	16	5029 C>T	Missense	Indeterminate
IVS16+1G>A	16	5105+1G>A	Splice	Splice
IVS17+1G>T	17	5193+1 G>T	Splice	Splice
A1708E	18	5242 C>A	Missense	Missense
Y1703X	18	5228 T>G	Nonsense	Nonsense
IVS17-1G>A	18	5194-1 G>A	Splice	Splice
5385insC (“5382insC”)	20	Ins C	Frameshift	Premature stop
E1754X	20	5379 G>T	Nonsense	Nonsense
M1775R	21	5443 T>G	Missense	Missense
C1787S^1-150	22	5478 T>A	Missense	Indeterminate
G1788D^1-150	22	5482 G>A	Missense	Missense
5454delC	22	Del C	Frameshift	Premature stop
R1835X	24	5622 C>T	Nonsense	Nonsense

↵1-150 The following groups of mutations were concurrently present in their respective samples: C1787S and G1788D; 1294del40 and V772A; 5385insC and H1402Y; Y1703X and L668F; 2576delC and P1637L; K679X and L246V; Y179C, F486L, and N550H.