Table 2.
Common and rare CALR exon 9 mutations detected in the cohorts of Greek ET and MF patients. Registration order according to increasing start site of mutation within the coding sequence. Mutations # 3, 6, 7, 9, 10 and 11 are novel and (as of May 8, 2017) are not included in the COSMIC v85 database.
| Coding sequence alteration (cDNA level) | Aminoacid sequence alteration | Recurrence | Previously reported | |
|---|---|---|---|---|
| 1 | c.1091_1124del34 | p.E364fs*55 | 1 | YES |
| 2 | c.1092_1143del52 | p.L367fs*46 | 62 | YES |
| 3 | c.1094_1130del37 | p.L367fs*50 | 1 | NO |
| 4 | c.1098_1131del34 | p.L367fs*52 | 3 | YES |
| 5 | c.1116_1146del31 | p.D373fs*47 | 1 | YES |
| 6 | c.1118_1125>CTTG | p.D373fs*56 | 1 | NO |
| 7 | c.1118_1140>CGTT | p.D373fs*51 | 1 | NO |
| 8 | c.1122_1140del19 | p.K375fs*49 | 1 | YES |
| 9 | c.1129_1132>TTTTGCTTA | p.K377fs*55 | 1 | NO |
| 10 | c.1129_1147del19 | p.K377fs*47 | 2 | NO |
| 11 | c.1131-1151>GGAGTGTC | p.E379fs*47 | 1 | NO |
| 12 | c.1154_1155insTTGTC | p.E385fs*47 | 41 | YES |
| 13 | c.1154_1155insATGTC | p.K386fs*46 | 1 | YES |