Mutation ID |
Systematic | Trivial | Georgia | Midwestern (IL, MI, MN)^ | Mid- western |
Western | North- astern |
South- eastern |
---|---|---|---|---|---|---|---|---|
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) |