Table A-II. International Data - Europe (Eastern Region)
Page Content
|
Mutation ID
|
Systematic
|
Trivial
|
Hungary
|
Bulgaria
|
Turkey
|
Moldova
|
Belarus
|
South Ukraine
|
West Ukraine
|
Kazan (Tataria)
|
Samara (Russia)
|
Moscow
|
St. Petersburg
|
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1
|
c.1 A->G
|
M1V
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2
|
c.3 G->A
|
M1I
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273
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c.47-48 delCT
|
L15/ S16 fsdel CT
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4
|
c.60+5 g->t
|
IVS1 nt5 g->t
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5
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c.117 C->G
|
F39L
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9
|
c.121C->T
|
L41F
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250
|
c.125
A->T
|
K42I
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10
|
c.136 G->A
|
G46S
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7
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c.143 T->C
|
L48S
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8
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c.165delT
|
F55fs
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185
|
c.168+5 g->c
|
IVS2 nt5 g->c
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221
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c.168+1 g->a
|
IVS2 nt1 g->a
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16
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c.194 T->C
|
I65T
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17
|
c.199 T->C
|
S67P
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18
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c.204 A->T
|
R68S
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189
|
c.227 A->C
|
E76A
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259
|
c.241 A->C
|
T81P
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19
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c.250 G->T
|
D84Y
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161
|
c.261 C->A
|
S87R
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21
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c.283-285 delATC
|
del94
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22
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c.311 C->A
|
A104D
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23
|
c.331 C->T
|
R111X
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218
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c.353-6 t->a
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IVS3 nt-6 t->a
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292
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c.365 C->A
|
P122Q
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293
|
c.386 A->G
|
D12
9G
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223
|
c.398-401 delATCA
|
N133 Q134fs
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26
|
c.428 A->G
|
D143G
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256
|
c.434 A->T
|
D145V
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294
|
c.439 C->T
|
P147S
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181
|
c.441+1 g->a
|
IVS4 nt1g->a
|
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29
|
c.442 G->A
|
G148S
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206
|
c.451 G->C
|
D151H
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295
|
c.452 A->G
|
D151G
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251
|
[c.470 G->A; c.471 A->C]
|
R157N
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31
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c.472 C->T
|
R158W
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30
|
c.473 G->A
|
R15
8Q
|
4/50 (34)
|
1/58 (17)
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296
|
c.493 G->A
|
A165T
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240
|
c.500 A->T
|
N167I
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33
|
c.509 A->G
|
H170R
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222
|
c.523 C->G
|
P175A
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37
|
c.526 C->T
|
R176X
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162
|
c.527 G->T
|
R176L
|
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|
215
|
c.529 G->C
|
V177L
|
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|
163
|
c.533 A->G
|
E178G
|
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38
|
c.561 G->A
|
W18 7X
|
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155
|
c.581 T->C
|
L194P
|
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|
297
|
c.586-608 del
|
S196 fsdel 22
|
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|
40
|
c.593-614 del
|
Y198 fs
|
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|
205
|
c.602 A->G
|
H20 1R
|
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41
|
c.611 A->g
|
E6nt-96 A->g
|
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42
|
c.612 T->G
|
Y204X
|
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Y204C
|
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43
|
c.632delC
|
P211 fsdelC
|
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230
|
c.635 T->C
|
L212P
|
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135
|
c.638 T->C
|
L213P
|
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|
174
|
c.649 T->G
|
C217G
|
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45
|
c.653 G->T
|
G218V
|
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46
|
c.662 A->G
|
E221G
|
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47
|
c.6630-664 delAG
|
E221D 222fsd
|
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249
|
c.665 A->T
|
D222V
|
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313
|
c.671 T->C
|
I224T
|
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164
|
c.688 G->A
|
V230I
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248
|
c.699
C->A
|
F233L
|
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53
|
c.721 C->T
|
R241C
|
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52
|
c.722 G->A
|
R241H
|
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190
|
c.722 G->T
|
R241L
|
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56
|
c.727 C->T
|
R243X
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55
|
c.728 G->A
|
R243Q
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9368 53217
|
c.728 G->T
|
R243L
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57
|
c.731 C->T
|
P244L
|
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228
|
c.733 G->C
|
V245L
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156
|
c.734 T->C
|
V245A
|
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241
|
c.737 C->A
|
A246D
|
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60
|
c.740 G->T
|
G247V
|
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345
|
c.743 T->C
|
L248P
|
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61
|
c.745 C->T
|
L24 9F
|
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62
|
c.754 C->T
|
R252W
|
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137
|
c.755 G->A
|
R252Q
|
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67
|
c.775 G->A
|
A259T
|
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66
|
c.776 C->T
|
A259V
|
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69
|
c.781 C->T
|
R261X
|
|
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68
|
c.782 G->A
|
R261Q
|
1/50 (34)
|
2/58 (17)
|
|
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|
139
|
c.782 G->C
|
R261P
|
|
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71
|
c.809 G->A
|
R270K
|
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|
177
|
c.811 C->T
|
H271Y
|
|
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|
73
|
c.814 G->T
|
G272X
|
0/40 (15)
|
0/50 (15)
|
0/40 (15)
|
|
|
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74
|
c.818 C->T
|
S273F
|
|
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76
|
c.829 T->G
|
Y277D
|
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78
|
c.833 C->A
|
T278N
|
|
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79
|
c.838 G->A
|
E280K
|
|
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|
80
|
c.842 C->T
|
P281L
|
|
1/55 (17)
|
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|
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|
|
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|
81
|
c.842+1 g->a
|
IVS7nt1 g->a
|
|
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|
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|
82
|
c.842+2 t->a
|
IVS7nt2 t->a
|
|
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|
151
|
c.842+5 g->a
|
IVS7nt5 g->a
|
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|
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|
316
|
c.842+3 g->c
|
IVS7nt3 g->c
|
|
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|
83
|
c.844 G->A
|
D282N
|
|
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|
216
|
c.889 C->T
|
R297C
|
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|
84
|
c.896 T->G
|
F299C
|
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85
|
c.898 G->T
|
A300S
|
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87
|
c.912+1 g->a
|
IVS8nt1 g->a
|
|
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|
178
|
c.913-7 a->g
|
IVS8 nt-7 a->g
|
|
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|
89
|
c.926 C->T
|
A309V
|
|
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|
158
|
c.926 C->A
|
A309D
|
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|
90
|
c.932 T->C
|
L311P
|
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141
|
c.941 C->A
|
P314H
|
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255
|
c.960 G->C
|
K320N
|
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|
92
|
c.965 C->G
|
A322G
|
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|
93
|
c.977 G->A
|
W326X
|
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254
|
c.992 T->G
|
F331C
|
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192
|
c.1001 G->C
|
C334S
|
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159
|
c.1012 G->T
|
D338Y
|
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245
|
c.1022 A->C
|
K341T
|
|
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|
167
|
c.1039 C->T
|
L347F
|
|
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100
|
c.1042 C->G
|
L348V
|
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101
|
c.1045 T->C
|
S349P
|
|
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|
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|
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|
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|
173
|
c.1047 -1048 ins GTCA
|
S349sf
|
|
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|
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|
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|
102
|
c.1055 delG
|
G352 fsdelG
|
|
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|
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|
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|
152
|
c.1065+1 g->a
|
IVS1 0nt1 g->a
|
|
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|
|
|
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|
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|
165
|
c.1065+3 a->g
|
IVS1 0nt 3a->g
|
|
|
|
|
|
|
|
|
|
|
|
|
103
|
c.1066-11 g->a
|
IVS10 nt-11 g->a
|
2/60 *(5)
|
|
31/31 *#(5)
|
|
|
|
|
|
|
|
|
|
168
|
c.1066-3 c->t
|
IVS10 nt-3 c->t
|
|
|
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|
|
|
|
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|
|
IVS10 nt546
|
|
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|
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|
|
IVS10 undis tinguish ed
|
1/50 (34)
|
|
|
|
|
|
|
|
|
|
|
|
232
|
c.1066 -1071ins6
|
Y356/ C357 ins6
|
|
|
|
|
|
|
|
|
|
|
|
|
104
|
c.1068 C->A
|
Y356X
|
|
|
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|
|
Y356X undis tinguish ed
|
|
|
|
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|
|
|
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|
|
147
|
c.1089 delG
|
K363fs delG
|
|
|
|
|
|
|
|
|
|
|
|
|
107
|
c.1090 -1092 delCTT
|
delL364
|
|
|
|
|
|
|
|
|
|
|
|
|
148
|
c.1129 delT
|
Y377fs delT
|
|
|
|
|
|
|
|
|
|
|
|
|
111
|
c.1139 C->T
|
T380M
|
|
|
|
|
|
|
|
|
|
|
|
|
114
|
c.1162 G->A
|
V388M
|
|
|
|
|
|
|
|
|
|
|
|
|
115
|
c.1169 A->G
|
E390G
|
|
|
|
|
|
|
|
|
|
|
|
|
117
|
c.1183 G->C
|
A395P
|
|
|
|
|
|
|
|
|
|
|
|
|
217
|
c.1196 -1199del TAAG
|
V399/ R400fs
|
|
|
|
|
|
|
|
|
|
|
|
|
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
|
|
|
|
|
|
|
|
|
|
|
|
|
301
|
c.1219 C->T
|
P407S
|
|
|
|
|
|
|
|
|
|
|
|
|
121
|
c.1222 C->T
|
R408W
|
24/50 (34) 40/2 (18) 34/70 (11)
|
20/58 (17) 21/54 (18) 21/60 (11)
|
1/83 (11)
|
9/14 (11)
|
285/418 (11)
|
26/44 (11)
|
23/38
(11)
|
21/41 (11)
|
28/48 (11)
|
35/62 (11)
|
96/144 (11)
|
|
122
|
c.1223 G->A
|
R408Q
|
|
|
|
|
|
|
|
|
|
|
|
|
123
|
c.1238 G->C
|
R413P
|
|
|
|
|
|
|
|
|
|
|
|
|
124
|
c.1241 A->G
|
Y414C
|
|
|
|
|
|
|
|
|
|
|
|
|
125
|
c.1243 G->A
|
D415N
|
|
|
|
|
|
|
|
|
|
|
|
|
127
|
c.1315 +1g->a
|
IVS12 nt1 g->a
|
3/50 (34)
|
|
|
|
|
|
|
|
|
|
|
|
266
|
c.1315+ 2t/c
|
IVS12 nt2t/c
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
IVS12
undis tinguish ed
|
|
|
|
|
|
|
|
|
|
|
|
|
128
|
c.1340 C->A
|
A447D
|
|
|
|
|
|
|
|
|
|
|
|
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Last Updated Date: 08/28/2006