Table 2. Relative frequency of CALR mutation types observed in samples from 52 patients with myeloproliferative neoplasms harbouring CALR mutations detected by Sanger sequencing and CAL2 immunohistochemistry.
| Genotypes | Frequency of the genotypes of the studied samples | Frequency of the genotypes according to Klampfl et al. | Frequency of the genotypes according to Nangalia et al. |
|---|---|---|---|
| (%) | (%) | (%) | |
| Total | 52 | 150 | 147 |
| Type 1 | |||
| L367fs*46 | 27 (52) | 67 (44.7) | 67 (45.5) |
| Type 2 | |||
| K385fs*47 | 15 (28.8) | 65 (43) | 61 (41.5) |
| D373fs*51& | 2 (3.8) | 0 | 0 |
| Rare genotypes | |||
| L367fs*52 | 3 (5.8) | 1 (0.7) | 1 (0.7) |
| L367fs*48 | 1 (1.9) | 2 (1.4) | 2 (1.4) |
| E406dela | 2 (3.8) | 0 | 0 |
| K375fs*49a | 1 (1.9) | 0 | 0 |
| E370fs*38a | 1 (1.9) | 0 | 0 |
Genotypes so far not listed in Human Genome Variation Society, the genotype marked with & is described in Cabagnols et al.10 &Marker.