Table 2 Mutations identified in exons 18–21 of the EGFR gene (RefSeq NM_005228)*.
| Sequence change | Amino acid change | Reference |
|---|---|---|
| Exon 18 | ||
| 2126A→T | E709V | 42, 43 |
| 2126A→C | E709A | 44, 45 |
| 2126A→G | E709G | 44, 45 |
| 2125G→A | E709K | 45 |
| 2155G→A | I715S | 43 |
| 2155 G→T | G719C | 40, 42–47 |
| 2155 G→A | G719S | 39, 43–45 |
| 2156 G→C | G719A | 42–44, 47, 48 |
| 2159 C→T | S720F | 43, 48 |
| Exon 19 | ||
| 2225T→C | V742A | 49 |
| Del (2236–2244)+2245G→C+2248G→C | E746‐R748 del with E749Q, A750P | 47 |
| Del (2235–2249)/del (2236–2250) | E746‐A750 del | 39, 40, 42–50 |
| Del (2235–2236)+ | E746‐A750 del with I, P ins | 48 |
| Del (2242–2248)+2241A→C | ||
| Del (2237–2251)+2252C→T | E746‐A750 del with V ins | 43 |
| Del (2237–2251) | E746‐T751 del with A ins | 44–46, 48, 50 |
| Del (2235–2236)+ | E746‐T751 del with I ins | 43, 48 |
| Del (2239–2252)/ | ||
| Del (2235–2252)+ | ||
| 2254T→A+2255C→T | ||
| Del (2235–2236)+ | E746‐T751del with I, P ins | 48 |
| Del (2242–2248)+2241A→C | ||
| 2237–2238 AA→TC+ | E746‐T751 del with V ins | 43, 49 |
| Del (2239–2253) | ||
| Del (2484–2501) | E746‐S752 del with D ins | 44 |
| Del (2237–2254)+2255C→T | E746‐S752 del with V ins | 45, 48, 50 |
| Del (2239–2247) | L747‐E749 | 46 |
| Del (2239–2247)+2248G→C | L747‐E749 del with P ins | 39, 42, 43, 45 |
| Del (2240–2248)+2239T→C | L747‐T750 del with P ins | 43, 48 |
| Del (2238–2252)/ | L747‐T751 del | 43, 44, 48, 49 |
| Del (2239–2253)/ | ||
| Del (2240–2254) | ||
| Del (2240–2251) | L747‐T751 del with S ins | 40, 46, 48 |
| Del (2239–2256) | L747‐S752 del | 44, 48 |
| Del (2239–2256)+2258 C→A | L747‐S752 del with Q ins | 43 |
| Del (2238–2255)+2237A→T | L747‐S752 del, E746V | 39 |
| Del (2240–2257) | L747‐P753 del with S ins | 39, 40, 42–46, 48–50 |
| Del (2240–2257) | L747S, R748‐P753 del | 47 |
| Del (2254–2277) | S752‐I759 del | 39, 47 |
| 2273A→G | E758G | 49 |
| Exon 20 | ||
| 2308 ins GCCATA | M766‐A767 with AI ins | 47 |
| 2308 ins CCAGCGTGG+ | A767‐S768 with SVA ins | 47 |
| 2310C→T silent | ||
| 2303G→T | S768I | 43–45, 47 |
| Dup (2549–2557) | S768‐D770 dup | 44 |
| 2308–2316 ins GCCAGCGTG | ASV770‐772 ins | 43 |
| 2320–2322 ins CAC | H774 ins | 43 |
| 2317–2222 ins AACCCC+ | NP773‐774 ins, H775Y | 43 |
| 2223 C>T | ||
| 2320–2325 ins CCCCAC | PH774‐775 ins | 43 |
| 2320–2328 ins AACCCCCAC | NPH774‐776 ins | 43 |
| 2326C→T | R776C | 51 |
| 2308 ins (CCAGCGTGG)+ | ins779 ASV+P782R | 48 |
| 2310C→T+ 2315C→G | ||
| 2311 ins (GCGTGGACA)+ | ins780 SVD+P782R | 48 |
| 2315C→G | ||
| 2369 C→T | T790M | 52–55 |
| Exon 21 | ||
| 2743T→G | L833V | 44 |
| 2750A→T | H835L | 44 |
| 2758C→G | L838V | 44 |
| 2513T→C | L838P | 49 |
| 2520C→T | A840A | 49 |
| 2527G→A | V843I | 49 |
| 2551G→A | V851I | 49 |
| 2572C→A | L858M | 46 |
| 2573T→G | L858R | 39, 40, 42–50 |
| 2582T→A | L861Q | 40, 42–45 |
| 2593G→A | E856L | 49 |
| 2612C→T | A871V | 49 |
*Only mutations reported with both nucleotide and amino acid changes are summarised. The beginning of the coding sequence is defined as +1.