Table 1. Summary of non-synonymous BRAF variants identified by NGS.
| Variant (GRCh38) | AA change | dbSNP ID | COSMIC ID (v71) | MM literature | Mutated patients (percentage of mutated sequencing reads) | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| 140753336A>T | V600E | rs113488022 | COSM476 | ref 4, 5, 6, 24 | MM-313 (44.59%) | PCL-043 (44.59%) | PCL-015 (41.18%) | MM-441 (35.74%) | MM-268 (29.57%) | MM-177 (27.18%) | MM-446 (26.48%) |
| 140753355C>T | D594N | rs397516896 | COSM27639 | * | MM-295 (50.00%) | PCL-026 (43.05%) | MM-036 (5.61%) | MM-140 (1.68%) | |||
| 140781602C>G | G469A | rs121913355 | COSM460 | ref 5 | PCL-023 (70.70%) | PCL-042 (51.26%) | MM-335 (50.52%) | ||||
| 140753354T>C | D594G | rs121913338 | COSM467 | ref 4, 6 | MM-435 (22.22%) | MM-219 (7.78%) | MM-411 (0.86%) | ||||
| 140753332T>A | K601N | / | COSM6265 | ref 5 | U266 (65.62%) | ||||||
| 140753379C>T | E586K | rs121913340 | COSM463 | ref 4 | PCL-026 (42.15%) | ||||||
| 140753349C>G | G596R | rs121913361 | COSM469 | / | MM-224 (35.44%) | ||||||
| 140753333T>G | K601T | rs397507484 | COSM3878760 | / | MM-039 (28.53%) | ||||||
| 140753353A>C | D594E | / | COSM253330 | / | PCL-028 (4.65%) | ||||||
*
Boyd EM et al. High resolution melting analysis for detection of BRAF exon 15 mutations in hairy cell leukaemia and other lymphoid malignancies. Br J Haematol. 2011; 155: 609-612.