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Table A-II. International Data - Europe (Central Region)

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Mutation ID Systematic Trivial West Germany Germany Switzer-
land
Italy Sicily Czecho-
slovakia
Poland Slovakian Gypsy Croatia Estonia Lithuania
1 c.1A->G M1V          
2 c.3G->A M1I      
273 c.47-48delCT L15/S16
fsdelCT
 
4 c.60+5g->t IVS1nt5g->t    
5 c.117C->G F39L  
9 c.121C->T L41F     
250 c.125A->T K42I   
10 c.136G->A G46S   
7 c.143T->C L48S 3/50(31)    1/50(3)
8 c.165delT F55fs  
185 c.168+5g->c IVS2
nt5g->c
         
221 c.168+1g->a IVS2
nt1g->a
                 
16 c.194T->C I65T   1/50(31)        
17 c.199T->C S67P   
18 c.204A->T R68S  
189 c.227A->C E76A        
259 c.241A->C T81P         
19 c.250G->T D84Y      
161 c.261C->A S87R     
21 c.283-285
delATC
delI94   1/83(29)
22 c.311C->A A104D  
23 c.331C->T R111X        4/50(31)  
218 c.353-6t->a IVS3
nt-6t->a
        
292 c.365C->A P122Q           
293 c.386A->G D129G          
223 c.398-401
delATCA
N133/Q134s           
26 c.428A->G D143G      
256 c.434A->T D145V     
294 c.439C->T P147S  
181 c.441+1g->a IVS4
nt1g->a
 
29 c.442G->A G148S
206 c.451G->C D151H
295 c.452A->G D151G   
251 c.470G->A; c.471A->C] R157N                   
31 c.472C->T R158W            
30 c.473G->A R158Q 2/50(31)   1/50(3)   5/100
(20)
296 c.493G->A A165T        
240 c.500A->T N167I        
33 c.509A->G H170R       
222 c.523C->G P175A     
37 c.526C->T R176X   
162 c.527G->T R176L        
215 c.529G->C V177L           
163 c.53 A->G E178G  
38 c.561G->A W187X     3/50(31)  
155 c.581T->C L194P                
297 c.586-608del S196
fsdel22
     
40 c.593-614del Y198fs  
205 c.602A->G H201R  
41 c.611A->g E6nt-96
A->g
     
42 c.612T->G Y204X                 
   Y204C                 
43 c.632delC P211
fsdelC
             
230 c.635T->C L212P      
135 c.638T->C L213P                  
174 c.649T->G C217G                
45 c.653G->T G218V               
46 c.662A->G E221G               
47 c.663-664
delAG
E221
D222fsd
              
249 c.665A->T D222V               
313 c.671T->C I224T                   
164 c.688G->A V230I                  
248 c.699C->A F233L                      
53 c.721C->T R241C                      
52 c.722G->A R241H                       
190 c.722G->T R241L                      
56 c.727C->T R243X                    
55 c.728G->A R243Q                       
9368 53217 c.728G->T R243L         
57 c.731C->T P244L      
228 c.733G->C V245L         
156 c.734T->C V245A        
241 c.737C->A A246D            
60 c.740 G->T G247V              
345 c.743 T->C L248P              
61 c.745C->T L249F          
62 c.754C->T R252W   2/42
*(23)
      
137 c.755G->A R252Q                     
67 c.775G->A A259T     
66 c.776C->T A259V             
69 c.781C->T R261X      2/50(31)             
68 c.782G->A R261Q    8/50(31)       3/50(3)    6/100
(20)
139 c.782G->C R261P               
71 c.809G->A R27K               
177 c.811C->T H271Y                   
73 c.814G->T G272X 2/100(15)    0/33(15) 0/72(15)   4/90(15) 1/148
(15)
        
74 c.818C->T S273F            
76 c.829T->G Y277D                
78 c.833C->A T278N                 
79 c.838G->A E280K            
80 c.842C->T P281L 4/42
*(23)
2/50(31)     6/50(3)  
81 c.842+1g->a IVS7nt1g->a            
82 c.842+2t->a IVS7nt2t->a        
151 c.842+5g->a IVS7nt5g->a                    
316 c.842+3g->c IVS7nt3g->c        
83 c.844G->A D282N        
216 c.889C->T R297C      
84 c.896 T->G F299C        
85 c.898 G->T A300S     3/50(31)           
87 c.912+1g->a IVS8nt1g->a                      
178 c.913-7a->g IVS8nt-7a->g    
89 c.926C->T A309V        
158 c.926C->A A309D    
90 c.932T->C L311P           
141 c.941C->A P314H                    
255 c.960G->C K320N                        
92 c.965C->G A322G                       
93 c.977G->A W326X                        
254 c.992T->G F331C                        
192 c.1001G->C C334S                       
159 c.1012G->T D338Y                         
245 c.1022A->C K341T                        
167 c.1039C->T L347F                         
100 c.1042C->G L348V                    
101 c.1045T->C S34P         1/50(31)           
173 c.1047-1048
insGTCA
S349sf                  
102 c.1055delG G352
fsdelG
                 
152 c.1065+1->a IVS1
nt1g->a
        10/66(26)              
165 c.1065+3a->g IVS10
nt3a->g
              2/50(3)    
103 c.1066-11g->a IVS10
nt-11g->a
5/5*#(5)  2/50*(5) 10/66*(5) 0/34*(5)    
168 c.1066-3c->t IVS10
nt-3c->t
           
IVS10nt546         7/50(31)           
IVS10undis
tinguished
                   
232 c.1066-1071
ins6
Y356/
C357in
                 
104 c.1068C->A Y356X                  
Y356X
undis
tinguished
                   
147 c.1089delG K363fsdelG                       
107 c.1090-1092
delCTT
delL364                 1/50(3)    
148 c.1129delT Y377fsdelT                    
111 c.1139C->T T380M                    
114 c.1162G->A V388M                     
115 c.1169A->G E390G       1/50(31)
117 c.1183G->C A395P                      
217 c.1196-1199
delTAAG
V399/R400fs                
146 c.1198delA R400fsdelA    
193 c.1198A/C R400R        
260 c.1199+20
g->c
IVS11
nt20g->c
           
119 c.1208C->T A403V       1/50
(31)
    
301 c.1219 C->T P407S                   
121 c.1222C->T R408W 24/50(34)
40/72(18)
24/70(11)
20/58(17)
21/54(18)
21/60(11)
1/83(11) 9/14(11) 285/418
(11)
26/44(11) 23/38
(11)
21/41
(11)
 28/48
(11)
 35/62
(11)
 96/144
(11)
122 c.1223G->A R408Q     1/50
(31)
     
123 c.1238G->C R413P              
124 c.1241A->G Y414C         2/50
(31)
  
125 c.1243G->A D415N         1/50
(31)
          
127 c.1315+1g->a IVS12
nt1g->a
      1/50(3) 1/100
(20)
266 c.1315+2t/c IVS12nt2t/c                    
IVS12
undis
tinguished
                 
128 c.1340C->A A447D                    

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Last Updated Date: 08/28/2006
Last Reviewed Date: 08/28/2006
Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology