Because of a lapse in government funding, the information on this website may not be up to date, transactions submitted via the website may not be processed, and the agency may not be able to respond to inquiries until appropriations are enacted.

The NIH Clinical Center (the research hospital of NIH) is open. For more details about its operating status, please visit cc.nih.gov.

Updates regarding government operating status and resumption of normal operations can be found at OPM.gov.

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

The content in this publication was current at the time it was published, but it is not being updated. The publication is provided for historical purposes only.​

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          

Back to Appendix A Tables

first | previous | next | last

top of page BACK TO TOP