| Mutation ID | Systematic | Trivial | French Canada | W. Quebec | E. Quebec | Montreal | Costa Rica | Mexico | San Paulo, Brazil | Argentina | Chile |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | c.1A->G | M1V | 5/18(15) | 1/57(4) 1/57(32) | 7/47(4) | 0/37(4) | |||||
| 2 | c.3G->A | M1I | |||||||||
| 273 | c.47-48 delCT |
L15/S16 fsdelCT |
|||||||||
| 4 | c.60+5 g->t |
IVS1nt5g->t | 2/12(33) | ||||||||
| 5 | c.117 C->G |
F39L | 5/57(4) | 1/47(4) | 0/37(4) | ||||||
| 9 | c.121 C->T |
L41F | |||||||||
| 250 | c.125A->T | K42I | 0/57(4) | 0/47(4) | 1/37(4) | ||||||
| 10 | c.136G->A | G46S | |||||||||
| 7 | c.143 T->C |
L48S | 2/57(4) | 0/47(4) | 1/37(4) | 4/12(33) | |||||
| 8 | c.165 delT |
F55fs | 1/57(4) | 0/47(4) | 0/37(4) | ||||||
| 185 | c.168+5 g->c |
IVS2nt5 g->c |
|||||||||
| 221 | c.168+1 g->a |
IVS2nt1 g->a |
|||||||||
| 16 | c.194T->C | I65T | 2/57(4) 2/57(32) | 2/47(4) | 2/37(4) | ||||||
| 17 | c.199T->C | S67P | 0/57(4) | 0/47(4) | 1/37(4) | ||||||
| 18 | c.204A->T | R68S | |||||||||
| 189 | c.227A->C | E76A | |||||||||
| 259 | c.241A->C | T81P | |||||||||
| 19 | c.250G->T | D84Y | |||||||||
| 161 | c.261C->A | S87R | |||||||||
| 21 | c.283-285 delATC |
delI94 | |||||||||
| 22 | c.311C->A | A104D | 0/57(4) | 0/47(4) | 1/37(4) | ||||||
| 23 | c.331C->T | R111X | 1/57(4) | 0/47(4) | 0/37(4) | ||||||
| 218 | c.353-6t->a | IVS3nt-6t->a | |||||||||
| 292 | c.365C->A | P122Q | |||||||||
| 293 | c.386A->G | D129G | |||||||||
| 223 | c.398-401 delATCA |
N133/Q13 4fs |
|||||||||
| 26 | c.428A->G | D143G | |||||||||
| 256 | c.434A ->T |
D145V | |||||||||
| 294 | c.439C ->T |
P147S | |||||||||
| 181 | c.441+1 g->a |
IVS4nt1 g->a |
|||||||||
| 29 | c.442G ->A |
G148S | |||||||||
| 206 | c.451G ->C |
D151H | |||||||||
| 295 | c.452A ->G |
D151G | |||||||||
| 251 | [c.470G ->A; c.471A ->C] |
R157N | 0/57(4) | 1/47(4) | 0/37(4) | ||||||
| 31 | c.472C ->T |
R158W | |||||||||
| 30 | c.473G ->A |
R158Q | 2/57(4) 1/57(32) | 1/47(4) | 1/37(4) | ||||||
| 296 | c.493G ->A |
A165T | |||||||||
| 240 | c.500A->T | N167I | |||||||||
| 33 | c.509A->G | H170R | |||||||||
| 222 | c.523C->G | P175A | |||||||||
| 37 | c.526C->T | R176X | 1/57(4) | 0/47(4) | 0/37(4) | ||||||
| 162 | c.527G->T | R176L | |||||||||
| 215 | c.529G->C | V177L | |||||||||
| 163 | c.533A->G | E178G | |||||||||
| 38 | c.561G->A | W187X | |||||||||
| 155 | c.581T->C | L194P | |||||||||
| 297 | c.586-608 del |
S196fsdel22 | |||||||||
| 40 | c.593-614 del |
Y198fs | |||||||||
| 205 | c.602A->G | H201R | |||||||||
| 41 | c.611A->g | E6nt-96A->g | |||||||||
| 42 | c.612T->G | Y204X | |||||||||
| Y204C | |||||||||||
| 43 | c.632 delC |
P211fsdelC | |||||||||
| 230 | c.635T->C | L212P | 0/57(4) | 1/47(4) | 0/37(4) | ||||||
| 135 | c.638T->C | L213P | |||||||||
| 174 | c.649T->G | C217G | |||||||||
| 45 | c.653G ->T |
G218V | 1/57(4) | 2/47(4) | 0/37(4) | ||||||
| 46 | c.662A->G | E221G | 1/12(33) | ||||||||
| 47 | c.663-664 delAG |
E221D222fsd | 0/57(4) | 1/47(4) | 0/37(4) | ||||||
| 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 | |||||||||
| 52 | c.722G->A | R241H | |||||||||
| 190 | c.722G->T | R241L | |||||||||
| 56 | c.727C->T | R243X | 0/57(32) | ||||||||
| 55 | c.728G->T | R243Q | |||||||||
| 9368 53217 | c.728G->T | R243L | |||||||||
| 57 | c.731C->T | P244L | |||||||||
| 228 | c.733G->C | V245L | |||||||||
| 156 | c.734T->C | V245A | 1/57(4) | 2/47(4) | 0/37(4) | ||||||
| 241 | c.737C->A | A246D | |||||||||
| 60 | c.740G->T | G247V | |||||||||
| 345 | c.743T->C | L248P | |||||||||
| 61 | c.745C->T | L249F | |||||||||
| 62 | c.754C->T | R252W | 1/57(4) 1/57(32) | 0/47(4) | 0/37(4) | ||||||
| 137 | c.755G->A | R252Q | |||||||||
| 67 | c.775G->A | A259T | |||||||||
| 66 | c.776C->T | A259V | |||||||||
| 69 | c.781C->T | R261X | |||||||||
| 68 | c.782G->A | R261Q | 1/57(4) 0/57(32) | 0/47(4) | 7/37(4) | ||||||
| 139 | c.782G->C | R261P | |||||||||
| 71 | c.809G->A | R270K | |||||||||
| 177 | c.811C->T | H271Y | |||||||||
| 73 | c.814G->T | G272X | 1/57(4) 0/57(32) | 1/47(4) | 0/37(4) | ||||||
| 74 | c.818C->T | S273F | 0/57(32) | ||||||||
| 76 | c.829T->G | Y277D | 0/57(32) | ||||||||
| 78 | c.833C->A | T278N | |||||||||
| 79 | c.838G->A | E280K | 3/57(4) 3/57(32) | 2/47(4) | 1/37(4) | ||||||
| 80 | c.842C->T | P281L | 1/57(4) 1/57(32) | 1/47(4) | 1/37(4) | ||||||
| 81 | c.842+1g->a | IVS7nt1g->a | 0/57(32) | ||||||||
| 82 | c.842+2t->a | IVS7nt2t->a | |||||||||
| 151 | c.842+5g->a | IVS7nt5g->a | |||||||||
| 316 | c.842+3g->c | IVS7nt3g->c | 4/12(33) | ||||||||
| 83 | c.844G->A | D282N | |||||||||
| 216 | c.889C->T | R297C | |||||||||
| 84 | c.896T->G | F299C | 6/57(4) 4/57(32) | 1/47(4) | 2/37(4) | ||||||
| 85 | c.898G->T | A300S | 1/57(4) 1/57(32) | 0/47(4) | 0/37(4) | ||||||
| 87 | c.912+1g->a | IVS8nt1g->a | 0/57(4) | 0/47(4) | 1/37(4) | ||||||
| 178 | c.913-7a->g | IVS8nt-7a->g | |||||||||
| 89 | c.926C->T | A309V | |||||||||
| 158 | c.926C->A | A309D | 3/57(4) 2/57(32) | 1/47(4) | 0/37(4) | ||||||
| 90 | c.932T->C | L311P | 0/57(32) | ||||||||
| 141 | c.941C->A | P314H | |||||||||
| 255 | c.960G->C | K320N | |||||||||
| 92 | c.965C->G | A322G | |||||||||
| 93 | c.977G->A | W326X | |||||||||
| 254 | c.992T->G | F331C | |||||||||
| 192 | c.1001G->C | C334S | |||||||||
| 159 | c.1012G->T | D338Y | 2/57(4) 1/57(32) | 0/47(4) | 0/37(4) | ||||||
| 245 | c.1022A->C | K341T | |||||||||
| 167 | c.1039C->T | L347F | |||||||||
| 100 | c.1042C->G | L348V | 2/57(4) 2/57(32) | 0/47(4) | 0/37(4) | ||||||
| 101 | c.1045T->C | S349P | 1/57(4) 2/57(32) | 6/47(4) | 1/37(4) | ||||||
| 173 | c.1047-1048 insGTCA |
S349sf | |||||||||
| 102 | c.1055delG | G352fsdelG | 0/57(4) 1/57(32) | 0/47(4) | 1/37(4) | ||||||
| 152 | c.1065+1 g->a |
IVS10nt1g->a | |||||||||
| 165 | c.1065+3 a->g |
IVS10nt3a->g | |||||||||
| 103 | c.1066- 11 g->a |
IVS10nt-11g->a | 0 /57(4) | 1/47(4) | 1/37(4) | ||||||
| 168 | c.1066-3 c->t |
IVS10nt-3c->t | |||||||||
| IVS10nt546 | 0/57(32) | ||||||||||
| IVS10 undistinguished | 5/14(27) | 18/56(27) | 22/104(27) | ||||||||
| 232 | c.1066-1071 ins6 |
Y356/C357ins6 | |||||||||
| 104 | c.1068C->A | Y356X | |||||||||
| Y356X undistinguished | |||||||||||
| 147 | c.1089delG | K363fsdelG | 1/57(4) | 0/47(4) | 1/37(4) | ||||||
| 107 | c.1090-1092 delCTT |
delL364 | |||||||||
| 148 | c.1129delT | Y377fsdelT | |||||||||
| 111 | c.1139C->T | T380M | |||||||||
| 114 | c.1162G->A | V388M | 14/158*(6) | 19/146*(6) | |||||||
| 115 | c.1169A->G | E390G | |||||||||
| 117 | c.1183G->C | A395P | |||||||||
| 217 | c.1196-1199 delTAAG |
V399/R400fs | |||||||||
| 146 | c.1198delA | R400fsdelA | |||||||||
| 193 | c.1198A/C | R400R | |||||||||
| 260 | c.1199+ 20 g->c |
IVS11nt20g->c | |||||||||
| 119 | c.1208C->T | A403V | 1/57(4) | 0/47(4) | 0/37(4) | ||||||
| 301 | c.1219C->T | P407S | |||||||||
| 121 | c.1222C->T | R408W | 15/88(11) | 4/57(4) 4/57(32) | 4/47(4) | 8/37(4) | |||||
| 122 | c.1223G->A | R408Q | |||||||||
| 123 | c.1238G->C | R413P | |||||||||
| 124 | c.1241A->G | Y414C | 0/57(32) | ||||||||
| 125 | c.1243G->A | D415N | 1/57(32) | ||||||||
| 127 | c.1315+1g->a | IVS12nt1g->a | 9/57(4) 6/57(32) | 8/47(4) | 4/37(4) | 1/12(33) | |||||
| 266 | c.1315+2t/c | IVS12nt2t/c | |||||||||
| IVS12 undistinguished | |||||||||||
| 128 | c.1340C->A | A447D |
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