Fig. 1. Results of Sanger sequencing of ARMS-negative samples. (A) Patient 1 had a very rare complex inframe deletion: c.2237_2251>TTC (p.E746_T751>VP), which was only reported once in the COSMIC database with mutation Id COSM18421. (B) Patient 2 had another complex inframe insertion: c.2231_2232ins18 (p.K745_E746insIPVAIK, with 18-bp “taaaattcccgtcgctat” inserted), it was reported six times in the COSMIC database with mutation Id COSM12423. (C) Patient 3 had a rare point mutation: c.2515G>A (p.A839T, COSM13430), which was reported four times. ARMS, amplification refractory mutation system. CDS, coding DNA sequence.
