Q6H |
2 |
Missense |
18G > C |
Asian |
Huang et al., 2004
|
L27fsX51 |
2 |
Frame shift |
81delG |
English/Irish |
Wallace et al., 2007
|
R54X |
3 |
Nonsense |
160A > T |
African American |
Murugan et al., 2008
|
G66X |
3 |
Nonsense |
196G > T |
Romanian |
Jánosi et al., 2005
|
V74fsX113 |
3 |
Frame shift |
220delG |
English |
Lanzara et al., 2004
|
C80R |
3 |
Missense |
238T > C |
Caucasian |
Lee et al., 2004
|
S85P |
3 |
Missense |
253T > C |
Italian |
Lanzara et al., 2004
|
G99R |
3 |
Missense |
295G > A |
Albanian |
Lanzara et al., 2004
|
G99V |
3 |
Missense |
296G > T |
Multiple |
Papanikolaou et al., 2004; Silvestri et al., 2007
|
L101P |
3 |
Missense |
302T > C |
Albanian |
Lanzara et al., 2004; Lee et al., 2004
|
G116X |
3 |
Nonsense |
|
|
Santos et al., 2012
|
C119F |
3 |
Missense |
G356 > T |
German |
Gehrke et al., 2005; Silvestri et al., 2007
|
R131fsX245 |
3 |
Frame shift |
391-403del |
Italian |
Lanzara et al., 2004
|
D149fsX245 |
3 |
Frame shift |
445delG |
Italian |
Lanzara et al., 2004
|
L165X |
3 |
Nonsense |
494T > A |
|
van Dijk et al., 2007
|
A168D |
3 |
Missense |
503C > A |
Australian /English |
Lanzara et al., 2004
|
F170S |
3 |
Missense |
509T > C |
Italian |
De Gobbi et al., 2002; Lanzara et al., 2004; Silvestri et al., 2007
|
D172E |
3 |
Missense |
516C > G |
Italian |
Lanzara et al., 2004
|
R176C |
3 |
Missense |
526C > T |
European |
Aguilar-Martinez et al., 2007; Ka et al., 2007
|
W191C |
3 |
Missense |
573G > T |
Italian |
De Gobbi et al., 2002; Lanzara et al., 2004; Silvestri et al., 2007
|
N196K |
3 |
Missense |
588T > G |
|
Santos et al., 2012
|
S205R |
3 |
Missense |
615C > G |
Italian |
Lanzara et al., 2004
|
I222N |
4 |
Missense |
665T > A |
Canadian |
Papanikolaou et al., 2004
|
K234X |
4 |
Nonsense |
700-703AAG del |
European |
Santos et al., 2012
|
D249H |
4 |
Missense |
745G > C |
Asian |
Santos et al., 2012
|
G250V |
4 |
Missense |
749G > T |
Italian |
Lanzara et al., 2004
|
N269fsX311 |
4 |
Frame shift |
806 > 807insA |
English |
Lanzara et al., 2004
|
I281T |
4 |
Missense |
842T > C |
Multiple |
Huang et al., 2004; Papanikolaou et al., 2004
|
C282Y |
4 |
Missense |
|
Caucasian |
Le Gac et al., 2004
|
R288W |
4 |
Missense |
863C > T |
French |
Lanzara et al., 2004
|
R288Y |
4 |
Missense |
862C > T |
|
Wallace et al., 2007
|
E302K |
4 |
Missense |
904G > A |
Brazilian |
Santos et al., 2011
|
A310G |
4 |
Missense |
929C > G |
Brazilian |
de Lima Santos et al., 2010; Santos et al., 2011
|
Q312X |
4 |
Nonsense |
934C > T |
Asian |
Nagayoshi et al., 2008
|
G319fsX341 |
4 |
Frame shift |
954-955insG |
Italian |
Lanzara et al., 2004
|
G320V |
4 |
Missense |
959G > T |
Multiple |
Lanzara et al., 2004; Papanikolaou et al., 2004; Gehrke et al., 2005; Silvestri et al., 2007; Santos et al., 2011
|
C321W |
4 |
Missense |
963C > G |
European |
Wallace et al., 2007
|
C321X |
4 |
Nonsense |
962G > A, 963C > A |
Asian |
Huang et al., 2004; Santos et al., 2012
|
R326X |
4 |
Nonsense |
976C > T |
Asian |
Huang et al., 2004; Papanikolaou et al., 2004
|
S328fsX337 |
4 |
Frame shift |
980-983 delTCTC |
Slovakian |
Gehrke et al., 2005
|
R335Q |
4 |
Missense |
1004G > A |
|
Wallace et al., 2007
|
C361fsX366 |
4 |
Frame shift |
1080delC |
European |
Papanikolaou et al., 2004
|
N372D |
4 |
Missense |
1114A > G |
|
Wallace et al., 2007
|
R385X |
4 |
Nonsense |
1153C > T |
Italian |
Lanzara et al., 2004; Santos et al., 2012
|