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

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 Iceland Portugal Spain Spanish Gypsies France Belgium The Netherlands Denmark Norway Sweden
1 c.1A->G M1V                          
2 c.3G->A M1I                 1/236
(9)		  
273 c.47-48
delCT		 L15/
S16fs
delCT		                    
4 c.60+5
g->t		 IVS1nt
5g->t		     4/129(25)                 
5 c.117
C->G		 F39L      1/129(25)
1/74(28)		              
9 c.121
C->T		 L41F                    
250 c.125
A->T		 K42I                    
10 c.136
G->A		 G46S               4/308(9) 17/236(9) 8/178(9)
7 c.143
T->C		 L48S     1/129(25)
1/74(28)		               
8 c.165
delT		 F55fs                 1/236(9)  
185 c.168+5
g->c		 IVS2nt5
g->c		                    
221 c.168+1
g->a		 IVS2nt1
g->a		                 1/236(9)  
16 c.194
T->C		 I65T   12/222
(30)		 8/74?(21)
7/60*(7)
11/129(25)
43/460(28)		         2/308(9) 5/236(9)  
17 c.199T
->C		 S67P                    
18 c.204
A->T		 R68S 1/31(13)   3/129(25)              
189 c.227
A->C		 E76A                    
259 c.241
A->C		 T81P                    
19 c.250
G->T		 D84Y                    
161 c.261
C->A		 S87R                    
21 c.283
-285
del
ATC		 delI94                    
22 c.311
C->A		 A104D             3/52(38)      
23 c.331
C->T		 R111X 1/31(13)                  
218 c.353-6
t->a		 IVS3nt-6
t->a		                 1/236(9)  
292 c.365
C->A		 P122Q     2/129(25)              
293 c.386
A->G		 D129G     2/129(25)              
223 c.398
-401
del
ATCA		 N133/
Q134fs		                    
26 c.428
A->G		 D143G                 1/236(9)  
256 c.434
A->T		 D145V                    
294 c.439
C->T		 P147S     1/129(25)              
181 c.441+1
g->a		 IVS4nt1
g->a		                    
29 c.442
G->A		 G148S                    
206 c.451
G->C		 D151H                    
295 c.452
A->G		 D151G     1/129(25)              
251 [c.470
G->A; c.471
A->C]		 R157N                      
31 c.472
C->T		 R158W                    
30 c.473
G->A		 R158Q   7/222(30) 0/40(21)         9/308(9) 2/236(9) 3/176*
(35)
296 c.493
G->A		 A165T     1/129(25)              
240 c.500
A->T		 N167I                    
33 c.509
A->G		 H170R                 1/236(9)  
222 c.523
C->G		 P175A                    
37 c.526
C->T		 R176X                    
162 c.527
G->T		 R176L     2/129(25)              
215 c.529
G->C		 V177L                 1/236(9)  
163 c.533
A->G		 E178G                    
38 c.561
G->A		 W187X             4/52(38)      
155 c.581
T->C		 L194P                    
297 c.586
-608
del		 S196fs
del22		     2/129(25)              
40 c.593
-614
del		 Y198fs   2/222(30) 1/129(25)              
205 c.602
A->G		 H201R                    
41 c.611
A->g		 E6nt-96
A->g		                 1/236(9)  
42 c.612
T->G		 Y204X     1/129(25)              
    Y204C                    
43 c.632
delC		 P211fs
delC		                    
230 c.635
T->C		 L212P                    
135 c.638
T->C		 L213P                    
174 c.649
T->G		 C217G             1/52(38)      
45 c.653
G->T		 G218V     1/129(25)         1/308(9) 1/236(9)  
46 c.662
A->G		 E221G     0/40(21)              
47 c.663
-664
delAG		 E221D
222fsd		                    
249 c.665
A->T		 D222V                    
313 c.671
T->C		 I224T                    
164 c.688
G->A		 V230I                    
248 c.699
C->A		 F233L                    
53 c.721
C->T		 R241C                    
52 c.722
G->A		 R241H                    
190 c.722
G->T		 R241L                    
56 c.727
C->T		 R243X     3/129(25)           1/236(9) 2/176
*(35)
55 c.728
G->A		 R243Q     3/129(25)              
9368 53217 c.728
G->T		 R243L                     
57 c.731
C->T		 P244L     1/64*(7)
1/129(25)		 1/74(28)            
228 c.733G
->C		 V245L                    
156 c.734
T->C		 V245A      1/129(25) 1/74(28)               
241 c.737
C->A		 A246D                    
60 c.740
G->T		 G247V                    
345 c.743
T->C		 L248P             1/52(38)      
61 c.745
C->T		 L249F     0/40(21)
0/64*(7)		            2/236(9)  
62 c.754
C->T		 R252W   9/222(30) 0/40(21) 0/64*(7) 1/129(25) 2/22*(8)           2/236(9) 3/176
*(35)
137 c.755
G->A		 R252Q                    
67 c.775
G->A		 A259T                 1/236(9)  
66 c.776
C->T		 A259V                    
69 c.781
C->T		 R261X   1/222
(30)		             1/236(9)  
68 c.782
G->A		 R261Q   23/222
(30)		 0/64*(7) 5/129
(25) 		2/74
(28) 		  9/52(38) 5/308(9) 19/236(9) 3/176
*(35)
139 c.782
G->C		 R261P             2/52(38)      
71 c.809
G->A		 R270K   2/222
(30)		                
177 c.811
C->T		 H271Y                    
73 c.814
G->T		 G272X         4/270
(15)		   2/100(15)
3/52(38)		 2/210(15) 5/308(9) 14/86(15) 37/236(9)
14/86(2) 		4/136
(15)
4/176
*(35)
74 c.818
C->T		 S273F 1/31
(13)		                  
76 c.829
T->G		 Y277D     2/129(25)       1/52(38)      
78 c.833
C->A		 T278N                    
79 c.838
G->A		 E280K     3/64*(7) 8/129
(25) 		3/74
(28) 		    9/308(9) 1/236(9)  
80 c.842
C->T		 P281L 6/31(13) 10/222
(30)		 3/64*(7) 3/46(26) 3/129
(25) 		3/74
(28) 		3/52(38) 4/308(9) 4/236(9) 4/176
*(35)
81 c.842+1
g->a		 IVS7nt1
g->a		               1/308(9) 1/236
(9)		  
82 c.842+2
t->a		 IVS7nt2
t->a		                    
151 c.842+5
g->a		 IVS7nt5
g->a		                    
316 c.842+3
g->c		 IVS7nt3
g->c		     1/129(25)              
83 c.844
G->A		 D282N                    
216 c.889
C->T		 R297C                 1/236(9)  
84 c.896
T->G		 F299C 4/31(13)               16/236(9)  
85 c.898
G->T		 A300S     2/129(25)       2/52(38)   1/236(9)  
87 c.912+1
g->a		 IVS8nt1
g->a		                    
178 c.913-7
a->g		 IVS8nt-7
a->g		     2/129(25)              
89 c.926
C->T		 A309V     3/129(25)              
158 c.926
C->A		 A309D                    
90 c.932
T->C		 L311P   3/222(30) 3/129(25)             1/176
*(35)
141 c.941
C->A		 P314H             1/52(38)      
255 c.960
G->C		 K320N                    
92 c.965
C->G		 A322G                   4/176
*(35)
93 c.977
G->A		 W326X                    
254 c.992
T->G		 F331C                    
192 c.1001
G->C		 C334S                    
159 c.1012
G->T		 D338Y                    
245 c.1022
A->C		 K341T                    
167 c.1039
C->T		 L347F                    
100 c.1042
C->G		 L348V   4/222(30)         2/52(38)      
101 c.1045
T->C		 S349P     3/129(25) 1/73(28)          1/308(9) 1/236(9)  
173 c.1047
-1048
insGT
CA		 S349sf             1/52(38)      
102 c.1055
delG 		G352fs
delG		                    
152 c.1065
+1g->a		 IVS10nt1
g->a		     5/46(26)              
165 c.1065
+3
a->g		 IVS10
nt3
a->g		                    
103 c.1066
- 11
g->a		 IVS10
nt-11
g->a		   24/222
(30)		 19/129(25)   7/88
*(5)		   1/52(38) 16/308
(9)
6/110
*(5)		 1/236(9)
0/50*(5)		 0/178
*(5)
168 c.1066
-3c->t		 IVS10nt
-3c->t		                    
    IVS10nt
546		       19/22
*(8)		            
    IVS10
undis
tinguish
ed		     15/74?(21)
13/64*(7)
64/460(28)		              
232 c.1066
-1071
ins6		 Y356/
C357
ins6		                    
104 c.1068
C->A		 Y356X                    
     Y356X
undis
tinguish
ed		                   1/308(9) 3/236(9)  
147 c.1089
delG		 K363fs
delG		                    
107 c.1090
-1092
del
CTT		 delL364                    2/176
*(35)
148 c.1129
delT		 Y377fs
delT		 13/31
(13)		                  
111 c.1139
C->T		 T380M     2/129(25)              
114 c.1162
G->A		 V388M   19/222
(30)		 8/129(25)
27/468*(6)
6/74(28)		              
115 c.1169
A->G		 E390G                    
117 c.1183
G->C		 A395P                    
217 c.1196
-1199
del
TAAG		 V399/ R400fs                 1/236(9)  
146 c.1198
delA		 R400fs
delA		                    
193 c.1198
A/C		 R400R                    
260 c.1199
+20
g->c		 IVS11
nt20
g->c		                    
119 c.1208
C->T		 A403V     4/129(25)
3/74(28)		              
301 c.1219
C->T		 P407S     1/129(25)              
121 c.1222
C->T		 R408W 1/31(13) 1/61(11) 2/222(30) 0/40(21)
0/64*(7)
0/46(11)		   6/51(18) 22/156
(11)		 12/2000
(11)		   56/308(9)
13/66(18)
56/308
(11)		 34/236(9) 27/196(11) 38/176*
(35)
39/178
(11)
122 c.1223
G->A		 R408Q     1/129(25)         1/308(9) 14/236(9) 3/176
*(35)
123 c.1238
G->C		 R413P             1/52(38)      
124 c.1241
A->G		 Y414C 2/31(13) 4/222(30) 1/64*(7)
3/129(25)
1/74(28)		         31/308(9) 26/236
(9)		 33/176
*(35)
125 c.1243
G->A		 D415N     3/129(25)              
127 c.1315+1
g->a		 IVS12nt1
g->a		 2/31(13)           12/52(38) 115/308
(9)		 35/236(9) 28/176
*(35)
266 c.1315
+2t/c		 IVS12nt
2t/c		                    
    IVS12
undis
tinguish
ed		     0/64*(7)              
128 c.1340
C->A		                      

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