Appendix A-I: United States
Page Content
Mutation ID
|
Systematic
|
Trivial
|
Georgia
|
Midwestern (IL, MI, MN)^
|
Midwestern
|
Western
|
Northeastern
|
Southeastern
|
|
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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Last Updated Date: 08/28/2006