Table 4.
Duplication mutations across studies
| Number | Mutation | Duplicated sequence |
|---|---|---|
| 7 | 33 dup18-33 (Rainis et al7) | GGG GTCCCTGGGG ACC (cytosine at 3′ end of duplication) |
| 12 | 45 dup 41-44 (Cabelof et al) | CCCT (cytosine repeat within duplication) |
| 19 | 90 insAGGG (Xu et al9) (dup) | cAGGG (cytosine flanks 5′ end of duplication) |
| 38 | 147 (dup 147-181) (Groet et al8) | gcCCCG AGCACAGCCA CCGCTGCAGC TGCGGCACTGgc (CpG flanks duplication) |
| 45 | 154-155 insCAGC (Hitzler et al6) (dup) | CAGC (cytosine at 5′ and 3′ ends of duplication) |
| 46 | 158-159 insACAG (Hitzler et al6) (dup) | gcACAGc (CpG flanks duplication) |
| 51 | 161-162 insAGCACAGCCAC (Hitzler et al6) (dup) | cgAGCACAGCCACcg (CpG flanks duplication) |
| 60 | 172 dup166-171delG (Cabelof et al) | gctGCA(g)CTgc (CpG flanks duplication) |
| 63 | 174 dup159-173insGC (Cabelof et al) | gcCA CCGCTGCAGC TGCGC (CpG flanks and additional gc added in duplication) |
| 68 | 182 dup172-181insGGG (Cabelof et al) | GCGGCACTG GGGGc (CpG at duplication endpoints) |
| 70 | 184 dup84-183 (Cabelof et al) | ccACAATCA…GCCT (tandem CC flank 5′ end and are duplicated at 3′ end) |
| 72 | 186 dup177-186 (Rainis et al7) | gcACTG GCCTAC (CpG flanks 5′ end; cytosine last duplicated base) |
| 75 | 187 dup166-187 (Rainis et al7) | GCAGC TGCGGCACTG GCCTACT (CpG at 5′ end of duplication) |
| 76 | 187-188 ins TACT (Weschler et al4) (dup) | ccTACT (tandem CC flank 5′ end of duplication) |
| 77 | 187-188 ins TACT (Weschler et al4) (dup) | ccTACT (tandem CC flank 5′ end of duplication) |
| 80 | 192 dup187-191 (Cabelof et al) | cTACA G (cytosine flanks 5′ end of duplication) |
In the left column, the number of the mutation (as in Table 3) is indicated. In the middle column, the mutation is described. In the far right column duplicated sequences and important flanking sequences are indicated. The duplicated sequences are in uppercase letters; mutations within the duplication are in uppercase italics; flanking sequences that are not part of the duplicated sequence are in lowercase.