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

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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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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