外显子 | 突变名称 | 碱基变化 | Cosmic ID |
EGFR exon 18 | G719A | 2156G>C | 6239 |
G719C | 2155G>T | 6253 | |
EGFR exon 19 | E746_ A750de1 (1) | 2235_ 2249del15 | 6223 |
E746_ A750del (2) | 2236_ 2250del15 | 6225 | |
L747_ P753>S | 2240_ 2257del18 | 12370 | |
E746_ T751>I | 2235_ 2252>AAT(complex) | 13551 | |
E746 _T751del | 2236_ 2253del18 | 12728 | |
E746_ S752>V | 2237_ 2255> T(complex) | 12384 | |
L747_ T751>Q | 2238_ 2252>GCA(complex) | 12419 | |
L747_ E749del | 2239_ 2247del9 | 6218 | |
L747_ S752del | 2239_ 2256del18 | 6255 | |
L747_ A750>P | 2239_ 2248TTAAGAGAAG>C(complex) | 12382 | |
L747_ P753>Q | 2239_ 2258>CA(complex) | 12387 | |
L747_ T751del | 2240_ 2254dell5 | 12369 | |
L747_ T751>P | 2239_ 2251>C(complex) | 12383 | |
EGFR exon 20 | S768I | 2303G> T | 6241 |
T790M | 2369C>T | 6240 | |
EGFR exon 21 | L861Q | 2582T>A | 6213 |
KRAS exon 2 | G12D | 35G>A | 521 |
G12S | 34G>A | 517 | |
G12A | 35G>C | 522 | |
G12V | 35G> T | 520 | |
G12R | 34G>C | 518 | |
G12C | 34G>T | 516 | |
G13C | 37G>T | 527 | |
BRAF exon 15 | V600E | 1799T>A | 476 |
HER2 exon 20 | A775_ G776insYVMA | 2325_ 2326 ins12 (TACGTGATGGCT) | 12558 |
A775_ G776insYVMA | 2324_ 2325 ins12 (ATACGTGATGGC) | 20959 | |
M774_ A775insAYVM | 2322_ 2323ins12 (GCATACGTGATG) | 682 | |
G776>VC | 2326_ 2327ins3 ( TGT) | 12553 | |
P780_ Y781insGSP | 2339_ 2340 ins9 (TGGCTCCCC) | 303948 | |
NRAS exon 2 | G13R | 37G>C | 569 |
G12C | 34G>T | 562 | |
G12V | 35G>T | 566 | |
G12A | 35G>C | 565 | |
G13V | 38G>T | 574 | |
NRAS exon 3 | Q61R | 182A>G | 584 |
Q61K | 181C>A | 580 | |
Q61L | 182A>T | 583 | |
Q61H | 183A>C | 586 | |
PIK3CA exon 9 | E545K | 1633G>A | 763 |
PIK3CA exon 20 | H1047R | 3140A> G | 775 |
融合突变 | 融合类型 | Cosmic ID |
ALK 融合 | EML4 exon 13;ALK exon 20 | 463 |
EML4 exon 6 ins 33;ALK exon 20 | 493 | |
EML4 exon 20;ALK exon 20 | 465 | |
EML4 exon 18;ALK exon 20 | 488 | |
EML4 exon 2;ALK exon 20 | 480 | |
ROS1 融合 | SLC34A2 exon4;ROS1 exon 32 | 1197 |
SLC34A2 exon14 del ;ROS1 exon 32 | 1260 | |
CD74 exon6;ROS1 exon 32 | 1203 | |
SDC4 exon2;ROS1 exon 32 | 1266 | |
SDC4 exon4;ROS1 exon 32 | 1279 | |
SLC34A2 exon4;ROS1 exon 34 | / | |
SLC34A2 exon14 del; ROS1 exon 34 | / | |
CD74 exon6; ROS1 exon 34 | 1201 | |
SDC4 exon4; ROS1 exon 34 | / | |
EZR exon10; ROS1 exon 34 | 1268 | |
TPM3 exon 8;ROS1 exon 35 | 1274 | |
LRIG3 exon 16;ROS1 exon 35 | 1270 | |
GOPC exon 8;ROS1 exon 35 | 1251 | |
RET 融合 | CCDC6 exon 1;RET exon 12 | 5918 |
NCOA4 exon9;RET exon 12 | / | |
KIF5B exon 15;RET exon 12 | 60431 | |
KIF5B exon 16;RET exon 12 | 60431 | |
KIF5B exon 23;RET exon 12 | 60431 | |
KIF5B exon 22;RET exon 12 | 60431 |