Mutation List
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57 mutation(s) found for your query.
| Start | Mutation | Type | Phenotype |
| -88 | -88 (C->A) | SUBSTITUTION | Unclear or unavailable |
| -87 | -87 (C->G) | SUBSTITUTION | Beta Thalassemia Intermedia |
| -87 | -87 (C->T) | SUBSTITUTION | Beta Thalassemia Minor |
| -30 | -30 (T->A) | SUBSTITUTION | Beta Thalassemia Major |
| -29 | -29 (A->G) | SUBSTITUTION | Beta Thalassemia Intermedia |
| -28 | -28 (A->G) | SUBSTITUTION | Unclear or unavailable |
| -28 | -28 (A->C) | SUBSTITUTION | Beta Thalassemia Minor |
| 33 | +33 (5' UTR) (C->G) | SUBSTITUTION | Unclear or unavailable |
| 61 | Codon 3 (T->C) | SUBSTITUTION | Beta Thalassemia Intermedia |
| 67 | Codon 5 (-C) | DELETION | Unclear or unavailable |
| 70 | Codon 6 (-A) | DELETION | Beta Thalassemia Minor |
| 73 | Codon 7 (+CTAGCAACCTCAAA...) | INSERTION | Beta Thalassemia Major |
| 75 | Codon 8 (-A) | DELETION | Beta Thalassemia Intermedia |
| 78 | Codon 9 (+G) | INSERTION | Beta Thalassemia Major |
| 97 | Codon 15 (G->A) | SUBSTITUTION | Beta Thalassemia Major |
| 101 | Codon 16 (-C) | DELETION | Beta Thalassemia Major |
| 102 | Codon 17 (A->T) | SUBSTITUTION | Unclear or unavailable |
| 129 | Codon 26 (G->A) | SUBSTITUTION | Unclear or unavailable |
| 132 | Codon 27 (+GCCCCTG) | INSERTION | Beta Thalassemia Minor |
| 142 | Codon 30 (G->C) | SUBSTITUTION | Unclear or unavailable |
| 143 | IVS I-1 (G->A) | SUBSTITUTION | Beta Thalassemia Intermedia |
| 143 | IVS I-1 (G->T) | SUBSTITUTION | Unclear or unavailable |
| 144 | IVS I-2 (T->A) | SUBSTITUTION | Beta Thalassemia Minor |
| 144 | IVS I-2 (T->C) | SUBSTITUTION | Unclear or unavailable |
| 147 | IVS I-5 (G->C) | SUBSTITUTION | Beta Thalassemia Minor |
| 147 | IVS I-5 (G->A) | SUBSTITUTION | Beta Thalassemia Major |
| 148 | IVS I-6 (T->C) | SUBSTITUTION | Unclear or unavailable |
| 252 | IVS I-110 (G->A) | SUBSTITUTION | Beta Thalassemia Minor |
| 258 | IVS I-116 (T->G) | SUBSTITUTION | Unclear or unavailable |
| 270 | IVS I-128 (T->G) | SUBSTITUTION | Beta Thalassemia Minor |
| 271 | IVS I-129 (A->A) | SUBSTITUTION | Beta Thalassemia Intermedia |
| 272 | IVS I-130 (G->C) | SUBSTITUTION | Beta Thalassemia Major |
| 273 | Codon 30 (G->A) | SUBSTITUTION | Beta Thalassemia Intermedia |
| 278 | Codon 32 (T->A) | SUBSTITUTION | Beta Thalassemia Intermedia |
| 284 | Codon 34 (+CCACCCTTAGGCT...) | INSERTION | Beta Thalassemia Intermedia |
| 293 | Codon 37 (G->A) | SUBSTITUTION | Beta Thalassemia Major |
| 298 | Codon 39 (C->T) | SUBSTITUTION | Beta Thalassemia Intermedia |
| 304 | Codon 41 (-T) | DELETION | Beta Thalassemia Intermedia |
| 305 | Codon 41 (-T) | DELETION | Beta Thalassemia Major |
| 310 | Codon 43 (G->T) | SUBSTITUTION | Beta Thalassemia Major |
| 397 | Codon 72 (+A) | INSERTION | Beta Thalassemia Minor |
| 429 | Codon 82 (-G) | DELETION | Unclear or unavailable |
| 451 | Codon 90 (G->T) | SUBSTITUTION | Beta Thalassemia Intermedia |
| 466 | Codon 95 (A->T) | SUBSTITUTION | Beta Thalassemia Major |
| 475 | Codon 98 (G->A) | SUBSTITUTION | Beta Thalassemia Intermedia |
| 496 | IVS II-1 (G->A) | SUBSTITUTION | Unclear or unavailable |
| 499 | IVS II-4 (-A) | DELETION | Beta Thalassemia Minor |
| 1149 | IVS II-654 (C->T) | SUBSTITUTION | Beta Thalassemia Intermedia |
| 1200 | IVS II-705 (T->G) | SUBSTITUTION | Unclear or unavailable |
| 1240 | IVS II-745 (C->G) | SUBSTITUTION | Beta Thalassemia Minor |
| 1339 | IVS II-844 (C->G) | SUBSTITUTION | Beta Thalassemia Intermedia |
| 1343 | IVS II-848 (C->A) | SUBSTITUTION | Beta Thalassemia Intermedia |
| 1345 | IVS II-850 (G->C) | SUBSTITUTION | Unclear or unavailable |
| 1374 | Codon 114 (T->C) | SUBSTITUTION | Beta Thalassemia Major |
| 1410 | Codon 126 (-T) | DELETION | Beta Thalassemia Minor |
| 1480 | +1480 (3' UTR) (C->G) | SUBSTITUTION | Unclear or unavailable |
| 1587 | +1587 (3' UTR) (A->G) | SUBSTITUTION | Beta Thalassemia Minor |