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Table A-II. International Data - Africa, Asia, & Australia

Mutation ID Systematic Trivial North African Jews Egypt Japan China Victoria, Australia
1 c.1A->G M1V          
2 c.3G->A M1I          
273 c.47-48delCT L15/S16fsdelCT         1/83(29)
4 c.60+5g->t IVS1nt5g->t          
5 c.117C->G F39L         3/83(29)
9 c.121C->T L41F   0/38(14)      
250 c.125A->T K42I          
10 c.136G->A G46S          
c.143T->C L48S   0/38(14)     1/83(29)
8 c.165delT F55fs          
185 c.168+5g->c IVS2nt5g->c   2/16(14)    
221 c.168+1g->a IVS2nt1g->a          
16 c.194T->C I65T          
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.283-285delATC delI94          
22 c.311C->A A104D          
23 c.331C->T R111X          
218 c.353-6t->a IVS3nt-6t->a          
292 c.365C->A P122Q          
293 c.386A->G D129G          
223 c.398-401delATCA N133/Q134fs          
26 c.428A->G D143G          
256 c.434A->T D145V          
294 c.439C->T P147S          
181 c.441+1g->a IVS4nt1g->a         1/83(29)
29 c.442G->A G148S         2/83(29)
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         1/83(29)
296 c.493G->A A165T         15/83(29)
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.533A->G E178G          
38 c.561G->A W187X          
155 c.581T->C L194P          
297 c.586-608del S196fsdel22          
40 c.593-614del Y198fs   6/100(14)      
205 c.602A->G H201R          
41 c.611A->g E6nt-96A->g          
42 c.612T->G Y204X          
         Y204C     1/22*(40) 12/104*(40)  
43 c.632delC P211fsdelC          
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.663-664delAG E221D222fsd          
249 c.665A->T D222V          
313 c.671T->C I224T   2/16(14)      
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         2/83(29)
55 c.728G->A R243Q     0/22*(40) 19/104*(40)  
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.740G->T G247V   2/16(14)      
345 c.743T->C L248P          
61 c.745C->T L249F          
62 c.754C->T R252W   0/44(14)     2/83(29)
137 c.755G->A R252Q          
67 c.775G->A A259T          
66 c.776C->T A259V   0/44(14)      
69 c.781C->T R261X   0/44(14)      
68 c.782G->A R261Q   0/42(14)     4/83(29)
139 c.782G->C R261P          
71 c.809G->A R270K          
177 c.811C->T H271Y          
73 c.814G->T G272X         1/83(29)
74 c.818C->T S273F          
76 c.829T->G Y277D          
78 c.833C->A T278N   0/42(14)      
79 c.838G->A E280K   0/20(14)     1/83(29)
80 c.842C->T P281L   0/44(14)     1/83(29)
81 c.842+1g->a IVS7nt1g->a         1/83(29)
82 c.842+2t->a IVS7nt2t->a       1/104(38)  
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.896T->G F299C         2/83(29)
85 c.898G->T A300S          
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       2/104(39)  
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         2/83(29)
101 c.1045T->C S349P 6/<128*(42)       1/83(29)
173 c.1047-1048insGTCA S349sf          
102 c.1055delG G352fsdelG          
152 c.1065+1g->a IVS10nt1g->a          
165 c.1065+3a->g IVS10nt3a->g          
103 c.1066- 11g->a IVS10nt-11g->a   6/112(14)      
168 c.1066-3c->t IVS10nt-3c->t          
         IVS10nt546         5/83(29)
        IVS10 undistinguished          
232 c.1066-1071ins6 Y356/C357ins6          
104 c.1068C->A Y356X       7/104(39)  
        Y356X undistinguished          
147 c.1089delG K363fsdelG          
107 c.1090-1092delCTT delL364          
148 c.1129delT Y377fsdelT          
111 c.1139C->T T380M          
114 c.1162G->A V388M          
115 c.1169A->G E390G          
117 c.1183G->C A395P         1/83(29)
217 c.1196-1199delTAAG V399/R400fs          
146 c.1198delA R400fsdelA         2/83(29)
193 c.1198A/C R400R          
260 c.1199+ 20g->c IVS11nt20g->c          
119 c.1208C->T A403V          
301 c.1219C->T P407S          
121 c.1222C->T R408W       5/78(41) 16/83(29)
122 c.1223G->A R408Q         1/83(29)
123 c.1238G->C R413P          
124 c.1241A->G Y414C          
125 c.1243G->A D415N          
127 c.1315+1g->a IVS12nt1g->a         13/83(29)
266 c.1315+2t/c IVS12nt2t/c          
          IVS12 undistinguished          
128 c.1340C->A A447D          

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Last Updated 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 Epidemiology Statistics and Prevention Branch Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology