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Appendix A-I: United States

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 Georgia Midwestern (IL, MI, MN)^ Mid-
western		 Western North-
astern		 South-
eastern
  1 c.1A->G M1V              
2 c.3G->A M1I              
273 c.47-48delCT L15/S16
fsdelCT		           1/127*(12)  
4 c.60+5g->t IVS1nt5g->t              
5 c.117C->G F39L 2/71*(10)    2/76*(12) 1/39*(12) 5/127*(12) 4/52*(12)
9 c.121C->T L41F              
250 c.125A->T K42I              
10 c.136G->A G46S              
7 c.143T->C L48S      2/76*(12) 1/39*(12) 1/127*(12) 1/52*(12)
8 c.165delT F55fsdelT         1/39*(12) 4/127*(12)  
185 c.168+5g->c IVS2nt5g->c               
221 c.168+1g->a IVS2nt1g->a           1/127*(12)  
16 c.194T->C I65T 11/71*(10)    1/76*(12) 1/39*(12) 7/127*(12) 3/52*(12)
17 c.199T->C S67P               
18 c.204A->T R68S           1/127*(12) 1/52*(12)
189 c.227A->C E76A 1/71*(10)             
259 c.241A->C T81P              2/52*(12)
19 c.250G->T D84Y         1/39*(12)     
161 c.261C->A S87R         1/39*(12)     
21 c.283-285
delATC		 delI94   1/228(19)    1/39*(12) 1/127*(12)  
22 c.311C->A A104D            1/52*(12)
23 c.331C->T R111X 1/71*(10) 2/228(19)     1/127*(12)  
218 c.353-6t->a IVS3nt-6t->a             
292 c.365C->A P122Q             
293 c.386A->G D129G             
223 c.398-401
delATCA		 N133/Q134fs         1/127*(12)  
26 c.428A->G D143G             
256 c.434A->T D145V         1/127*(12)  
294 c.439C->T P147S             
181 c.441+1g->a IVS4nt1g->a     1/76*(12)       
29 c.442G->A G148S         1/127*(12)  
206 c.451G->C D151H            
295 c.452A->G D151G            
251 [c.470G->A;
c.471A->C]		 R157N            
31 c.472C->T R158W        1/39*(12) 1/127*(12)  
30 c.473G->A R158Q    0/228(19) 1/76*(12)    4/127*(12)  
296 c.493G->A A165T              
240 c.500A->T N167I              
33 c.509A->G H170R              
222 c.523C->G P175A             1/52*(12)
37 c.526C->T R176X           1/127*(12)  
162 c.527G->T R176L              
215 c.529G->C V177L             1/52*(12)
163 c.533A->G E178G 1/71*(10)   1/76*(12)    1/127*(12)  
38 c.561G->A W187X      1/76*(12) 1/39*(12)    
155 c.581T->C L194P               
297 c.586-608del S196fsdel22                
40 c.593-614del Y198fs                
205 c.602A->G H201R                
41 c.611A->g E6nt-96A->g                
42 c.612T->G Y204X                
     Y204C          1/39*(12)    
43 c.632delC P211fsdelC          1/39*(12)    
230 c.635T->C L212P                
135 c.638T->C L213P 1/71*(10)          1/127*(12)  
174 c.649T->G C217G               
45 c.653G->T G218V 1/71*(10)    2/76*(12)       
46 c.662A->G E221G               
47 c.663-664
delAG		 E221D222fsdelAG      1/76*(12)       
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 1/71*(10)      1/39*(12) 1/127*(12)  
52 c.722G->A R241H         1/39*(12)   2/52*(12)
190 c.722G->T R241L 1/71*(10)            
56 c.727C->T R243X 1/71*(10)         1/127*(12) 2/52*(12)
55 c.728G->A R243Q               
936853217 c.728G->T R243L               
57 c.731C->T P244L               
228 c.733G->C V245L            1/127*(12)  
156 c.734T->C V245A            1/127*(12)  
241 c.737C->A A246D               
60 c.740G->T G247V               
345 c.743T->C L248P               
61 c.745C->T L249F 1/71*(10)         1/127*(12) 1/52*(12)
62 c.754C->T R252W 2/71*(10)      1/39*(12) 3/127*(12) 1/52*(12)
137 c.755G->A R252Q       3/76*(12)       
67 c.775G->A A259T               
66 c.776C->T A259V               
69 c.781C->T R261X 1/71*(10)            
68 c.782G->A R261Q 1/71*(10) 10/228(19) 3/76*(12)    3/127*(12) 1/52*(12)
139 c.782G->C R261P               
71 c.809G->A R270K         2/39*(12)    
177 c.811C->T H271Y               
73 c.814G->T G272X 2/71*(10) 2/228(19) 1/76*(12)       
74 c.818C->T S273F               
76 c.829T->G Y277D 1/71*(10)           2/52*(12)
78 c.833C->A T278N               
79 c.838G->A E280K 1/71*(10) 3/228(19) 2/76*(12) 1/39*(12) 4/127*(12) 1/52*(12)
80 c.842C->T P281L 2/71*(10) 5/228(19) 2/76*(12)    6/127*(12)   
81 c.842+1g->a IVS7nt1g->a       1/76*(12)         
82 c.842+2t->a IVS7nt2t->a                 
151 c.842+5g->a IVS7nt5g->a       1/76*(12) 1/39*(12)      
316 c.842+3g->c IVS7nt3g->c                 
83 c.844G->A D282N                 
216 c.889C->T R297C                 
84 c.896T->G F299C 2/71*(10)         1/127*(12) 2/52*(12)
85 c.898G->T A300S            7/127*(12)   
87 c.912+1g->a IVS8nt1g->a 2/71*(10)      1/39*(12)     4/52*(12)
178 c.913-7a->g IVS8nt-7a->g                 
89 c.926C->T A309V       2/76*(12)         
158 c.926C->A A309D                 
90 c.932T->C L311P    0/228(19)           
141 c.941C->A P314H                 
255 c.960G->C K320N       1/76*(12)       1/52*(12)
92 c.965C->G A322G                 
93 c.977G->A W326X                 
254 c.992T->G F331C         1/39*(12)      
192 c.1001G->C C334S 1/71*(10)              
159 c.1012G->T D338Y                 
245 c.1022A->C K341T                 
167 c.1039C->T L347F      1/76*(12)         
100 c.1042C->G L348V 4/71*(10)      2/39*(12) 6/127*(12) 1/52*(12)
101 c.1045T->C S349P           1/127*(12)   
173 c.1047-1048
insGTCA		 S349sf               
102 c.1055delG G352fsdelG               
152 c.1065+1g->a IVS10nt1g->a   29/228(19)          
165 c.1065+3a->g IVS10nt3a->g               
103 c.1066-11g->a IVS10nt-11g->a      3/76*(12) 1/39*(12) 8/127*(12) 1/52*(12)
168 c.1066-3c->t IVS10nt-3c->t         1/39*(12) 1/127*(12)   
     IVS10nt546 4/71*(10)              
     IVS10 undistinguished                 
232 c.1066-107
ins6		 Y356/C357in                
104 c.1068C->A Y356X                
    Y356X undistinguished                
147 c.1089delG K363fsdelG            1/127*(12)  
107 c.1090-1092
delCTT		 delL364                
148 c.1129delT Y377fsdelT                
111 c.1139C->T T380M                
114 c.1162G->A V388M         2/127*(12)  
115 c.1169A->G E390G     1/76*(12)   1/127*(12) 1/52*(12)
117 c.1183G->C A395P        1/39*(12) 1/127*(12)  
217 c.1196-1199
delTAAG		 V399/R400fs             
146 c.1198delA R400fsdelA         1/127*(12)  
193 c.1198A/C R400R 2/71*(10)             
260 c.1199+20g->c IVS11nt20g->c       1/39*(12)       
119 c.1208C->T A403V     1/76*(12)   2/127*(12)  
301 c.1219C->T P407S               
121 c.1222C->T R408W 11/71*(10) 51/228(19) 17/76*(12) 8/39*(12) 26/127*(12) 4/52*(12)
122 c.1223G->A R408Q     1/76*(12)       
123 c.1238G->C R413P               
124 c.1241A->G Y414C 6/71*(10) 11/228(19) 8/76*(12) 1/39*(12) 4/127*(12) 3/52*(12)
125 c.1243G->A D415N          1/127*(12)  
127 c.1315+1g->a IVS12nt1g->a 2/71*(10) 15/228(19) 12/76*(12) 1/39*(12) 5/127*(12) >5/52*(12)
266 c.1315+2t/c IVS12nt2t/c             
     IVS12 undistinguished               
128 c.1340C->A A447D       1/76*(12)     1/52*(12)

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