Table 2.
GATA1 exon 2 mutations across studies
| Number | Mutation |
|---|---|
| 1 | 2-3 insT (Cabelof et al) |
| 2 | 4-37del ins134 (Cabelof et al) |
| 3 | 5-6 delAG (Xu et al9) |
| 4 | 9 insC (Xu et al9) |
| 5 | 12-13 insT (Hitzler et al6) |
| 6 | 31-32 insA (Cabelof et al) |
| 7 | 33 dup18-33 (Rainis et al7) |
| 8 | 36-37 delAG (Xu et al9) |
| 9 | 38-39 del2 (Hitzler et al6) |
| 10 | 40 insC (Xu et al9) |
| 11 | 45 insC (Xu et al9) |
| 12 | 45 dup 41-44 (Cabelof et al) |
| 13 | 49-50 del2bp (Groet et al8) |
| 14 | 84-85 insT (Weschler et al4) |
| 15 | 90 del AG (Rainis et al7) |
| 16 | 90 del AG (Rainis et al7) |
| 17 | 90-91 delAG (Xu et al9) |
| 18 | 90-91 delAG (Xu et al9) |
| 19 | 90 insAGGG (Xu et al) (dup9) |
| 20 | 90-91 delAG (Xu et al9) |
| 21 | 99-100 ins4 (Cabelof et al) |
| 22 | 105 insC (Rainis et al7) |
| 23 | 105-106 insC (Hitzler et al6) |
| 24 | 106-107 insT (Cabelof et al) |
| 25 | 114-115 del47 (Hitzler et al6) |
| 26 | 114-159 del46 (Cabelof et al) |
| 27 | 114-159 del46 (Cabelof et al) |
| 28 | 116 delA (Xu et al9) |
| 29 | 121-131 del11 (Hitzler et al6) |
| 30 | 127-128 ins1 (Mundschau et al5) |
| 31 | 133-154 del22bp (Groet et al8) |
| 32 | 135-158 del24 (Hitzler et al6) |
| 33 | 139 delT (Groet et al8) |
| 34 | 140 del35bp (Rainis et al7) |
| 35 | 143-168 del26 (Hitzler et al6) |
| 36 | 143-168 del26 (Cabelof et al) |
| 37 | 146-180 del (Mundschau et al) |
| 38 | 147 (dup 147-181) (Groet et al8) |
| 39 | 149-150 insG (Cabelof et al) |
| 40 | 150 delG (Rainis et al7) |
| 41 | 150 insT (Xu et al9) |
| 42 | 151 del43 (Rainis et al7) |
| 43 | 151 delG (Groet et al8) |
| 44 | 152-210 del (Weschler et al4) |
| 45 | 154-155 insCAGC (Hitzler et al6) (dup) |
| 46 | 158-159 insACAG (Hitzler et al6) (dup) |
| 47 | 158-159 ins7bp (Groet et al8) |
| 48 | 158-159 ins7bp (Groet et al8) |
| 49 | 159-160 ins20 (Mundschau et al5) |
| 50 | 160 ins10bp (Rainis et al7) |
| 51 | 161-162 insAGCACAGCCAC (Hitzler et al6) (dup) |
| 52 | 161-162 insAGTG (Hitzler et al6) |
| 53 | 161-162 ins5 (Cabelof et al) |
| 54 | 162 del1 (Hitzler et al6) |
| 55 | 162 delCinsTGT (Cabelof et al) |
| 56 | 166 insT (Hitzler et al6) |
| 57 | 166-167 del (Weschler et al4) |
| 58 | 169 ins22bp (Xu et al9) |
| 59 | 170-171 ins1 (Mundschau et al5) |
| 60 | 172 dup166-171delG (Cabelof et al) |
| 61 | 173-174 ins 15bp (Weschler et al4) |
| 62 | 173-174 ins16 (Mundschau et al5) |
| 63 | 174 dup159-173insGC (Cabelof et al) |
| 64 | 174-175 ins14 (Mundschau et al5) |
| 65 | 174 ins19bp (Xu et al9) |
| 66 | 180 ins11bp (Rainis et al7) |
| 67 | 180 insT (Rainis et al7) |
| 68 | 182 dup172-181insGGG (Cabelof et al) |
| 69 | 184 ins19 (Rainis et al7) |
| 70 | 184 dup84-183 (Cabelof et al) |
| 71 | 185 insA (Rainis et al7) |
| 72 | 186 dup177-186 (Rainis et al7) |
| 73 | 186-187 insT (Hitzler6) |
| 74 | 187 insT (Xu et al9) |
| 75 | 187 dup166-187 (Rainis et al7) |
| 76 | 187-188 ins TACT (Weschler et al4) (dup) |
| 77 | 187-188 ins TACT (Weschler et al4) (dup) |
| 78 | 189 delC (Xu et al9) |
| 79 | 189 Del11bpIns22bp (Rainis et al7) |
| 80 | 192 dup187-191 (Cabelof et al) |
| 81 | 192 delGins3bp (Rainis et al7) |
| 82 | 193 ins5bp (Rainis et al7) |
| 83 | 205-218 del (Mundschau et al5) |
| 84 | 209 delGA (Rainis et al7) |
| 85 | 220 del10bp (Rainis et al7) |
Mutations are written as reported by the authors in the original reports, except that the numbering of the mutations was adapted to reflect a uniform numbering system as described in “Methods.” In addition, if a mutation was found to be a duplication that was not indicated in the original report(s), the designation (dup) follows the mutation. Several mutations from other reports have not been included because they occurred in regions outside exon 2.