Skip Navigation
  Print Page

Table A-II. International Data - British Isles

Skip sharing on social media links
Share this:
Mutation ID Systematic Trivial England SW England London Wales Scotland Ireland N. Ireland
1 c.1A->G M1V              
2 c.3G->A M1I              
273 c.47-48delCT L15/S16fsdelCT              
4 c.60+5g->t IVS1nt5g->t              
5 c.117C->G F39L   4/124(37) 5/73(37) 2/64(37) 13/229(37)   7/78(43)
9 c.121C->T L41F              
250 c.125A->T K42I              
10 c.136G->A G46S   2/124(37) 0/73(37) 1/64(37) 0/229(37)   2/64(9) 2/78(43)
7 c.143T->C L48S   7/124(37) 0/73(37) 0/64(37) 2/229(37)    
8 c.165delT F55fs   1/124(37) 0/73(37) 0/64(37) 0/229(37)    
185 c.168+5g->c IVS2nt5g->c              
221 c.168+1g->a IVS2nt1g->a   0/124(37) 1/73(37) 1/64(37) 0/229(37)    
16 c.194T->C I65T   10/124(37) 9/73(37) 6/64(37) 34/229(37)   15/64(9) 15/78(43)
17 c.199T->C S67P   1/124(37) 0/73(37) 0/64(37) 0/229(37)    
18 c.204A->T R68S   0/124(37) 0/73(37) 0/64(37) 1/229 (37)    
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   1/124(37) 0/73(37) 0/64(37) 0/229(37)    
22 c.311C->A A104D              
23 c.331C->T R111X   1/124(37) 0/73(37) 0/64(37) 0/229(37)    
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              
26 c.428A->G D143G              
256 c.434A->T D145V              
294 c.439C->T P147S              
181 c.441+1g->a IVS4nt1g->a              
29 c.442G->A G148S   0/124(37) 0/73(37) 0/64(37) 2/229(37)    
206 c.451G->C D151H   1/124(37) 0/73(37) 0/64(37) 0/229(37)    
295 c.452A->G D151G              
251 [c.470G->A; c.471A->C] R157N              
31 c.472C->T R158W              
30 c.473G->A R158Q 0/72(15) 0/124(37) 0/73(37) 0/64(37) 1/229(37)   1/64(9) 1/78(43)
296 c.493G->A A165T               
240 c.500A->T N167I   0/124(37) 0/73(37) 1/64(37) 1/229(37)    
33 c.509A->G H170R   1/124(37) 0/73(37) 0/64(37) 0/229(37)    
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   1/124(37) 0/73(37) 0/64(37) 0/229(37)    
38 c.561G->A W187X              
155 c.581T->C L194P   0/124(37) 0/73(37) 0/64(37) 2/229(37)   1/78(43)
297 c.586-608del S196fsdel22              
40 c.593-614del Y198fs              
205 c.602A->G H201R   0/124(37) 0/73(37) 0/64(37) 1/229(37)    
41 c.611A->g E6nt-96A->g              
42 c.612T->G Y204X              
    Y204C   1/124(37) 0/73(37) 0/64(37) 0/229(37)    
43 c.632delC P211fsdelC              
230 c.635T->C L212P              
135 c.638T->C L213P              
174 c.649T->G C217G              
45 c.653G->T G218V   2/124(37) 0/73(37) 2/64(37) 0/229(37)    
46 c.662A->G E221G              
47 c.663-664
delAG
E221D222fsd               
249 c.665A->T D222V   1/124(37) 0/73(37) 0 64(37) 0/229(37)    
313 c.671T->C I224T              
164 c.688G->A V230I   0/124(37) 0/73(37) 0/64(37) 1/229(37)    
248 c.699C->A F233L   1/124(37) 0/73(37) 2/64(37) 0/229(37)    
53 c.721C->T R241C              
52 c.722G->A R241H              
190 c.722G->T R241L              
56 c.727C->T R243X   1/124(37) 0/73(37) 0/64(37) 2/229(37)   2/64(9) 2/78(43)
55 c.728G->A R243Q   0/124(37) 0/73(37) 0/64(37) 1/229(37)   1/78(43)
9368 53217 c.728G->T R243L              
57 c.731C->T P244L              
228 c.733G->C V245L   0/124(37) 0/73(37) 0/64(37) 1/229(37)    
156 c.734T->C V245A             1/78(43)
241 c.737C->A A246D   0/124(37) 0/73(37) 0/64(37) 1/229(37)    
60 c.740G->T G247V              
345 c.743T->C L248P              
61 c.745C->T L249F             1/64(9) 1/78(43)
62 c.754C->T R252W              
137 c.755G->A R252Q              
67 c.775G->A A259T              
66 c.776C->T A259V              
69 c.781C->T R261X              
68 c.782G->A R261Q 1/72(15) 1/124(37) 0/73(37) 2/64(37) 2/229(37)   1/64(9) 1/78(43)
139 c.782G->C R261P              
71 c.809G->A R270K              
177 c.811C->T H271Y   0/124(37) 0/73(37) 1/64(37) 1/229(37)    
73 c.814G->T G272X 0/84(15)       0/62(15)    
74 c.818C->T S273F   0/124(37) 0/73(37) 0/64(37) 2/229(37)    
76 c.829T->G Y277D   0/124(37) 0/73(37) 0/64(37) 4/229(37)   1/78(43)
78 c.833C->A T278N              
79 c.838G->A E280K   3/124(37) 1/73(37) 3/64(37) 2/229(37)    
80 c.842C->T P281L   2/124(37) 0/73(37) 0/64(37) 3/229(37)    
81 c.842+1g->a IVS7nt1g->a   1/124(37) 0/73(37) 2/64(37) 1/229(37)    
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   5/124(37) 0/73(37) 0/64(37) 0/229(37)    
216 c.889C->T R297C              
84 c.896T->G F299C   4/124(37) 5/73(37) 4/64(37) 7/229(37)   2/64(9) 2/78(43)
85 c.898G->T A300S   1/124(37) 0/73(37) 0/64(37) 0/229(37)    
87 c.912+1g->a IVS8nt1g->a   0/124(37) 1/73(37) 1/64(37) 1/229(37)   1/78(43)
178 c.913-7a->g IVS8nt-7a->g   1/124(37) 1/73(37) 0/64(37) 2/229(37)    
89 c.926C->T A309V             1/78(43)
158 c.926C->A A309D             1/78(43)
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   0/124(37) 0/73(37) 0/64(37) 1/229(37)    
167 c.1039C->T L347F              
100 c.1042C->G L348V   6/124(37) 4/73(37) 2/64(37) 16/229(37)   2/78(43)
101 c.1045T->C S349P   1/124(37) 3/73(37) 2/64(37) 2/229(37)   1/64(9) 1/78(43)
173 c.1047-1048
insGTCA
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 0/38*(5) 5/124(37) 0/73(37) 0/64(37) 0/26*(5) 0/229(37) 7/48*(5)  
168 c.1066-3c->t IVS10nt-3c->t              
  IVS10nt546              
  IVS10 undistinguished              
232 c.1066-1071
ins6
Y356/C357ins6   0/124(37) 0/73(37) 0/64(37) 1/229(37)    
104 c.1068C->A Y356X              
  Y356X undistinguished 0/124(37) 0/64(37) 0/73(37) 1/229(37)      
147 c.1089
delG
K363fsdelG              
107 c.1090-1092
delCTT
delL364              
148 c.1129delT Y377fsdelT              
111 c.1139C->T T380M   0/124(37) 0/73(37) 0/64(37) 2/229(37)   5/78(43)
114 c.1162G->A V388M              
115 c.1169A->G E390G   1/124(37) 0/73(37) 0/64(37) 0/229(37)   1/78(43)
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
IVS11nt20g->c              
119 c.1208C->T A403V              
301 c.1219C->T P407S              
121 c.1222C->T R408W 8/72(15) 17/153(11) 12/124(37) 11/73(37) 9/64(37) 3/34(18) 51/158(11) 71/229(37) 142/334(11) 25/64(9) 25/78(43)
122 c.1223G->A R408Q   0/124(37) 1/73(37) 0/64(37) 4/229(37)   3/64(9) 3/78(43)
123 c.1238G->C R413P              
124 c.1241A->G Y414C   3/124(37) 1/73(37) 1/64(37) 8/229(37)   2/64(9) 3/78(43)
125 c.1243G->A D415N   0/124(37) 0/73(37) 0/64(37) 1/229(37)    
127 c.1315+1
g->a
IVS12nt1g->a   33/124(37) 12/73(37) 6/64(37) 11/229(37)    
266 c.1315+2t/c IVS12nt2t/c              
  IVS12 undistinguished 19/72(15)            
128 c.1340C->A A447D              

Back to Appendix A Tables

first | previous | next | last

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