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Red Cotton™ CRISPR point mutation strategy designer is now released! Exclusive algorithm, automatically design 2 strategies in 1 minute!
To learn more >Relying on the Red Cotton™ CRISPR point mutation strategy designer and CRISPR-U™
system, the most efficient point mutation cell line strategy can be generated automatically,
which allows us provide high-quality point mutation cell construction services. Now, we had
screened for nearly 1000 high-frequency mutations to help cancer research, ONLY
$6480!!
Contact us now to assess
your project >>
Service type | Promotional price (USD) | Turnaround | Deliverable | |
---|---|---|---|---|
Promotional loci, please search your target below | A549、HCT116 and HEK293 only | $6480 | 12-20 weeks | Positive clone |
Other mutations | 293T A549 HCT116Hela4T1H9C2RAW264.7NCI-H1299 | $8980 | ||
Promotional cell lines in 200 cell list. Please Inquire >> | $9980 |
Gene | Mutation site |
---|
ABL1 | 1 | 2 | 3 | 4 | 5 |
ABL1-RCSD | FOXP1-ABL1 | ABL1-RCSD1 | FOXP1-ABL1 fusion | SNX2-ABL1 fusion | |
ABL1 | 6 | 7 | 8 | 9 | 10 |
ETV6-ABL1 | H201L | Y232S | M237V | I242T | |
ABL1 | 11 | 12 | 13 | 14 | 15 |
BCR-ABL M244V | BCR-ABL L248V | BCR-ABL L248R | BCR-ABL G250E | G250V | |
ABL1 | 16 | 17 | 18 | 19 | 20 |
Q252H | Q252R | BCR-ABL Y253H | Y253F | BCR-ABL E255K | |
ABL1 | 21 | 22 | 23 | 24 | 25 |
BCR-ABL E255V | E258D | L273M | BCR-ABL D276G | T277A | |
ABL1 | 26 | 27 | 28 | 29 | 30 |
E279K | E281K | V289I | E292V | L298V | |
ABL1 | 31 | 32 | 33 | 34 | 35 |
BCR-ABL V299L | Q300R | BCR-ABL F311L | BCR-ABL F311I | BCR-ABL T315I | |
ABL1 | 36 | 37 | 38 | 39 | 40 |
BCR-ABL T315A | BCR-ABL F317L | BCR-ABL F317V | BCR-ABL F317C | BCR-ABL F317S | |
ABL1 | 41 | 42 | 43 | 44 | 45 |
BCR-ABL F317I | BCR-ABL N331S | N336S | G340L | Y342H | |
ABL1 | 46 | 47 | 48 | 49 | 50 |
M343T | BCR-ABL M351T | R351W | BCR-ABL E355G | BCR-ABL F359V | |
ABL1 | 51 | 52 | 53 | 54 | 55 |
BCR-ABL F359C | BCR-ABL F359I | D363Y | BCR-ABL L364P | L364I | |
ABL1 | 56 | 57 | 58 | 59 | 60 |
A365V | A366G | BCR-ABL V379I | L384M | BCR-ABL L387F | |
ABL1 | 61 | 62 | 63 | 64 | 65 |
BCR-ABL L387M | M388L | Y393C | BCR-ABL H396R | BCR-ABL H396P | |
ABL1 | 66 | 67 | 68 | 69 | 70 |
BCR-ABL A397P | BCR-ABL G398R | S417Y | I418V | I418S | |
ABL1 | 71 | 72 | 73 | 74 | 75 |
D421G | I432T | S438C | P441L | BCR-ABL E450V | |
ABL1 | 76 | 77 | 78 | 79 | 80 |
E450G | E450K | E450Q | E450A | BCR-ABL E453A | |
ABL1 | 81 | 82 | 83 | 84 | 85 |
BCR-ABL E453K | BCR-ABL E453Q | E453V | E459G | BCR-ABL E459K | |
ABL1 | 86 | 87 | 88 | 89 | 90 |
M472I | C475V | BCR-ABL P480A | P480L | BCR-ABL F486S | |
ABL1 | 91 | 92 | 93 | 94 | |
F486Y | G514S | NUP214-ABL1 | BCR-ABL | ||
ABL2 | 1 | ||||
ABL2 fusions | |||||
ADRB1 | 1 | ||||
Gly389Arg(c.1165G>A/C) | |||||
AKT1 | 1 | 2 | |||
E17K | Q79K | ||||
AKT3 | 1 | ||||
E17K | |||||
ALDH2 | 1 | ||||
Glu504Lys(1510G>A) | |||||
ALK | 1 | 2 | 3 | 4 | 5 |
RANBP2-ALK | EML4-ALK | R214H | DEL4-11 | T1151M | |
ALK | 6 | 7 | 8 | 9 | 10 |
L1152P | F1174L | F1174C | F1174V | R1192P | |
ALK | 11 | 12 | 13 | 14 | 15 |
L1196Q | L1198F | L1198P | F1245C | F1245V | |
ALK | 16 | 17 | 18 | 19 | 20 |
R1275Q | EML4-ALK E2;A20 | EML4-ALK E6;A20 | HIP1-ALK I1171N | EML4-ALK T1151INST | |
ALK | 21 | 22 | 23 | 24 | 25 |
EML4-ALK L1152R | EML4-ALK C1156Y | EML4-ALK I1171S | EML4-ALK V1180L | EML4-ALK L1196M | |
ALK | 26 | 27 | 28 | 29 | 30 |
EML4-ALK S1206Y | EML4-ALK G1269A | EML4-ALK E20;A20 | ALK fusion | CLTC-ALK | |
ALK | 31 | 32 | 33 | 34 | |
NPM-ALK | STRN-ALK | EML4-ALK C1156Y–L1196M | EML4-ALK C1156Y–L1198F | ||
ANKK1 | 1 | ||||
Glu713Lys(c.2317G>A) | |||||
AR | 1 | 2 | |||
SPLICE VARIANT 7 | F877L | ||||
ARAF | 1 | 2 | |||
S214C | S490T | ||||
ARID1A | 1 | 2 | |||
Q456* | P1175FS*5 | ||||
ATM | 1 | 2 | |||
N2875H | V2288FS*1 | ||||
ApoE | 1 | 2 | |||
Cys130Arg(c.388T>C) | Arg176Cys(c.526C>T) | ||||
B2M | 1 | ||||
S14FS | |||||
BRAF | 1 | 2 | 3 | 4 | 5 |
PAPSS1-BRAF | ZKSCAN1-BRAF | BRAF-CUL1 | MACF1-BRAF fusion | CUX1-BRAF | |
BRAF | 6 | 7 | 8 | 9 | 10 |
PPFIBP2-BRAF | TRIM24-BRAF | FAM131B-BRAF | G464V | G466V | |
BRAF | 11 | 12 | 13 | 14 | 15 |
G466A | G469A | G469V | G469R | G469E | |
BRAF | 16 | 17 | 18 | 19 | 20 |
K483M | G496A | L505H | N581S | D594G | |
BRAF | 21 | 22 | 23 | 24 | 25 |
D594N | D594A | D594V | F595L | G596R | |
BRAF | 26 | 27 | 28 | 29 | 30 |
G596C | G596V | L597Q | L597R | L597S | |
BRAF | 31 | 32 | 33 | 34 | 35 |
L597V | V600E | V600 | V600K | V600D | |
BRAF | 36 | 37 | 38 | 39 | 40 |
V600R | K601E | G606E | P731T | AGK-BRAF | |
BRAF | 41 | 42 | 43 | 44 | 45 |
DELNVTAP | WASFL-BRAF fusion | DEL 485-490 | V600E+V600M | V600_K601DELINSD | |
BRCA1 | 1 | 2 | 3 | 4 | 5 |
M1V | M1I | C61G | C64Y | R71G | |
BRCA1 | 6 | 7 | 8 | 9 | 10 |
R71K | R1443* | Q1467* | R1495M | E1559K | |
BRCA1 | 11 | 12 | |||
D1692N | W1815X | ||||
BRCA2 | 1 | 2 | 3 | 4 | 5 |
M1R | M1I | V159M | V211L | V211I | |
BRCA2 | 6 | 7 | |||
R2336P | R2336H | ||||
BRD4 | 1 | ||||
BRD4-NUTM1 | |||||
BTK | 1 | 2 | |||
T316A | C481S | ||||
CALR | 1 | ||||
EXON 9 FRAMESHIFT | |||||
CBL | 1 | 2 | 3 | 4 | |
Q294E | V391I | W802* | S80N/H94Y | ||
CDKN2A | 1 | 2 | |||
A20P | W110* | ||||
CRLF2 | 1 | ||||
Phe232Cys | |||||
CSF1R | 1 | ||||
MEF2D-CSF1R | |||||
CSF3R | 1 | ||||
T618I | |||||
CTLA4 | 1 | ||||
CTLA4-CD28 | |||||
CTNNB1 | 1 | 2 | |||
T41A | S45F | ||||
CYP2C19*17 | 1 | ||||
c.-806C>T | |||||
CYP2C19*2 | 1 | ||||
c.681G>A | |||||
CYP2C19*3 | 1 | ||||
p.Trp212Ter(c.636G>A) | |||||
CYP2C9*2 | 1 | ||||
Arg144Cys(430C>T) | |||||
CYP2C9*3 | 1 | ||||
Ile359Leu(1075A>C) | |||||
CYP2D6*10 | 1 | ||||
Pro34Ser(c.100C>G) | |||||
CYP2D6*3 | 1 | ||||
A2637 deletion | |||||
CYP2D6*4 | 1 | ||||
G1934A | |||||
CYP2D6*5 | 1 | ||||
CYP2D6 deletion | |||||
CYP3A5*3 | 1 | ||||
6986A>G | |||||
CYP4F2*3 | 1 | ||||
V433M(c.1297G>A) | |||||
DDIT3 | 1 | ||||
FUS-DDIT3 | |||||
DDR2 | 1 | 2 | 3 | 4 | 5 |
L63V | L239R | G253C | G505S | I638F | |
DDR2 | 6 | 7 | |||
S768R | G774V | ||||
DEK | 1 | ||||
DEK-AFF2 fusion | |||||
DPYD | 1 | 2 | |||
DPYD*2A HOMOZYGOSITY | DPYD*13 HOMOZYGOSITY | ||||
DPYD*2A | 1 | ||||
1986A>G(IVS14+1G>A) | |||||
EGFR | 1 | 2 | 3 | 4 | 5 |
Exon 18 deletion | EXON 19 DELETION | EXON 20 INSERTION | EGFR-RAD51 fusion | R108K | |
EGFR | 6 | 7 | 8 | 9 | 10 |
T263P | A289V | F404I | F404V | T415M | |
EGFR | 11 | 12 | 13 | 14 | 15 |
V441G | V441D | V441F | S442R | S442I | |
EGFR | 16 | 17 | 18 | 19 | 20 |
R451C | I462K | I462R | S464L | S464T | |
EGFR | 21 | 22 | 23 | 24 | 25 |
G465E | G465V | G465R | K467T | K467N | |
EGFR | 26 | 27 | 28 | 29 | 30 |
K489Q | K489E | I491K | I491R | S492R | |
EGFR | 31 | 32 | 33 | 34 | 35 |
S492C | P546S | A702S | R705K | E709Q | |
EGFR | 36 | 37 | 38 | 39 | 40 |
G719S | G719A | G719D | G719 | S720 | |
EGFR | 41 | 42 | 43 | 44 | 45 |
G724S | W731L | E734Q | V742A | E746V | |
EGFR | 46 | 47 | 48 | 49 | 50 |
E746G | L747P | A750T | P753S | K757R | |
EGFR | 51 | 52 | 53 | 54 | 55 |
D761N | D761Y | S768I | S768N | V769A | |
EGFR | 56 | 57 | 58 | 59 | 60 |
delD770insGY | N771DELinsVH | V774A | V774M | R776C | |
EGFR | 61 | 62 | 63 | 64 | 65 |
S784F | T785A | T790M | C797S | C797Y | |
EGFR | 66 | 67 | 68 | 69 | 70 |
Y801H | K806E | G810S | N826Y | N826S | |
EGFR | 71 | 72 | 73 | 74 | 75 |
R831H | V834I | L838P | L838V | N842S | |
EGFR | 76 | 77 | 78 | 79 | 80 |
T847I | P848L | V851I | T854A | L858R | |
EGFR | 81 | 82 | 83 | 84 | 85 |
A859T | L861R | L861Q | L861 | A864T | |
EGFR | 86 | 87 | 88 | 89 | 90 |
E868G | E884K | RARE EX 18-21 MUT | Y69FS*11 | Ex19 del L858R | |
EGFR | 91 | 92 | 93 | 94 | 95 |
VIII | E709K+G719A | E 709A+G719C | I744_K745insKIPVAI | K745_E749delKELRE | |
EGFR | 96 | 97 | 98 | 99 | 100 |
E746_A750delELREA | delE746_A750 | E746_T751delinsA | E746_T751delinsVA | L747_T751delLREAT | |
EGFR | 101 | 102 | 103 | 104 | 105 |
L747_S752del | L747_S752INSQ | L747_P753delinsS | delL747_P753insS | S752_I759delSPKANKEI | |
EGFR | 106 | 107 | 108 | 109 | 110 |
A763_Y764insFQEA | Y764_V765insHH | M766_A767insASV | M766_A767insAI | A767_V769dupASV | |
EGFR | 111 | 112 | 113 | 114 | 115 |
S768_D770dup | V769_770insASV | D770_N771insNPG | D770_N771insSVD | D770_N771insGL | |
EGFR | 116 | 117 | 118 | 119 | 120 |
D770_N771insGT | D770_N771insGY | N771>003eGY | P772_H773insH | P772_H773insYNP | |
EGFR | 121 | 122 | 123 | 124 | 125 |
P772_V774insPHV | H773_V774insH | H773_V774insNPH | V774_C775insHV | E709_T710>003eD | |
EGFR | 126 | 127 | 128 | 129 | 130 |
E746_A750>003eIP | E746_T751>003eI | E746_S752>003eD | E746_S752>003eA | L747_A750>003eP | |
EGFR | 131 | 132 | 133 | ||
L747_T751>003eP | L747_T751>003eQ | L747_P753>003eQ | |||
ERBB2 | 1 | 2 | 3 | 4 | 5 |
G309A | S310F/Y | L638S | R678Q | K753E | |
ERBB2 | 6 | 7 | 8 | 9 | 10 |
L753E | L755S | L755W | L755P | K755S | |
ERBB2 | 11 | 12 | 13 | 14 | 15 |
L768S | D769Y | D769H | V773A | V773 | |
ERBB2 | 16 | 17 | 18 | 19 | 20 |
V773L | M774DELINSWLV | G776L | V777L | P780INS | |
ERBB2 | 21 | 22 | 23 | 24 | 25 |
T798I | T798M | V842I | N857S | T862A | |
ERBB2 | 26 | 27 | 28 | 29 | 30 |
L866M | L869R | H878Y | R896C | ERBB2 G776INSV_G/C | |
ERBB2 | 31 | 32 | 33 | 34 | |
DEL 755-759 | Y772_A775DUP | A775_G776insYVMA | G778_P780DUP | ||
ERBB3 | 1 | 2 | 3 | 4 | |
R103G | V104M | G284R | V855A | ||
ERBB4 | 1 | ||||
G1109C | |||||
ERRFI1 | 1 | ||||
E384* | |||||
ESR1 | 1 | 2 | 3 | 4 | 5 |
E380Q | S463P | L536Q | L536R | Y537S | |
ESR1 | 6 | 7 | 8 | ||
Y537N | Y537C | D538G | |||
EWSR1 | 1 | ||||
EWSR1-NR4A3 | |||||
EZH2 | 1 | 2 | 3 | ||
Y646 | EZH2 Y641F | Y646 or Y641 | |||
FBXW7 | 1 | 2 | 3 | 4 | 5 |
R505C | R505H | G579W | R658Q | L403FS*34 | |
FBXW7 | 6 | ||||
S668FS*39 | |||||
FCGR3A | 1 | ||||
F212V | |||||
FGFR1 | 1 | 2 | |||
N546K | ZNF198-FGFR1 | ||||
FGFR2 | 1 | 2 | 3 | 4 | 5 |
FGFR2 fusions | FGFR2-BICC1 | FGFR2-AHCYL1 | FGFR2-TACC3 | FGFR2-MGEA5 | |
FGFR2 | 6 | ||||
N550K | |||||
FGFR3 | 1 | 2 | 3 | 4 | 5 |
FGFR3 fusion | FGFR3-TACC3 | R248C | S249C | FGFR3-BAIAP2L1 | |
FGFR3 | 6 | 7 | 8 | 9 | 10 |
G370C | Y373C | Y375C | G380R | F386L | |
FGFR3 | 11 | 12 | 13 | 14 | 15 |
V443L | V443M | V496V | V555M | K650E | |
FGFR3 | 16 | ||||
G691R | |||||
FLT3 | 1 | 2 | 3 | 4 | 5 |
T227M | D835V | D835 | D835H | D835H/Y | |
FLT3 | 6 | 7 | 8 | 9 | 10 |
D835E | ITD | E588_Y589INSKYFYVDFRE | Y591_V592INSVDFREYE | V592_D593INSDFREY | |
FLT3 | 11 | ||||
E611_F612INS25 | |||||
FOXO1 | 1 | ||||
PAX3-FOXO1 | |||||
G6PD | 1 | 2 | 3 | 4 | 5 |
95A>G | 871G>A | 1004C>T | 1024C>T | 1376G>T | |
G6PD | 6 | ||||
1388G>A | |||||
GJB2 | 1 | 2 | 3 | 4 | 5 |
35 del G | c.35insG | 167 del T | c.235delC | 299-300 del AT | |
GJB2 | 6 | ||||
176-191del 16 | |||||
GJB3 | 1 | 2 | 3 | 4 | |
494C>T | c.538C>T | 547G>A | 1555A>G | ||
GNAQ | 1 | 2 | |||
Q209 | Q209P | ||||
GNAS | 1 | 2 | 3 | ||
R201H | R201C | T393C | |||
GSTP1 | 1 | ||||
I105V | |||||
HBA | 1 | 2 | 3 | 4 | 5 |
(-α3.7/) | (-α4.2/) | WS122 | QS125 | CS142 | |
HBA | 6 | 7 | |||
(--SEA/) | (--THAI/) | ||||
HBB | 1 | 2 | 3 | 4 | 5 |
IVS-Ⅰ-1(G>T) | IVS-Ⅰ-5 (G>C) | CD17(AAG>TAG) | CD26(GAG>AAG) | -28(A>G) | |
HBB | 6 | 7 | 8 | 9 | 10 |
-29(A>G) | -30(T>C) | CD31(-C) | -32(C>A) | CD43(GAG>TAG) | |
HBB | 11 | 12 | 13 | 14 | 15 |
IVS-Ⅱ-654(C>T) | CD14-15(+G) | CD27/28(+C) | CD41-42(-CTTT) | CD71-72(+A) | |
HBB | 16 | 17 | |||
Initiation codon (ATG>AGG) | 5′UTR Cap+40-43-42(-AAAC) | ||||
HRAS | 1 | 2 | 3 | 4 | 5 |
G12D | G12V | G13D | G13R | G13V | |
HRAS | 6 | 7 | 8 | ||
Q61L | Q61R | Q61K | |||
IDH1 | 1 | 2 | 3 | 4 | 5 |
R132C | R132H | R132L | R132S | R132G | |
IDH2 | 1 | 2 | |||
R140 | R172K | ||||
IFNL3 | 1 | ||||
基因上游约3 kb处(C>T/G) | |||||
JAK1 | 1 | 2 | 3 | 4 | |
P429S | Q503* | W690* | S703I | ||
JAK2 | 1 | 2 | 3 | 4 | 5 |
JAK2 fusions | Exon 12 splice site insertion | SSBP2-JAK2 | V617F | JAK2 F694L | |
JAK3 | 1 | 2 | 3 | ||
S61C | M511I | V722I | |||
KDR | 1 | 2 | 3 | ||
D717V | R961W | A1065T | |||
KIT | 1 | 2 | 3 | 4 | 5 |
M541L | P551L | Y553D | E554D | W557G | |
KIT | 6 | 7 | 8 | 9 | 10 |
W557R | W557T | K558NP | K558R | K558Q | |
KIT | 11 | 12 | 13 | 14 | 15 |
V559D | V559DEL | V559G | V559A | V559 | |
KIT | 16 | 17 | 18 | 19 | 20 |
V560G | V560D | V560DEL | T574A | Q575L | |
KIT | 21 | 22 | 23 | 24 | 25 |
L576P | P577L | D579DEL | S628N | K642E | |
KIT | 26 | 27 | 28 | 29 | 30 |
V654A | T661I | T670I | S692L | Q694K | |
KIT | 31 | 32 | 33 | 34 | 35 |
C809G | D816V | D816H | D816Y | D816G | |
KIT | 36 | 37 | 38 | 39 | 40 |
D816E | D820Y | D820A | D820G | N822K | |
KIT | 41 | 42 | 43 | 44 | 45 |
N822K | N822H | Y823D | A829P | T417_D419DELTYDINSI | |
KIT | 46 | 47 | 48 | 49 | 50 |
T417_D419delinsY | K484_G487DEL | S501_A502INSAY | A502_Y503insAY | Y503_F504insAY | |
KIT | 51 | 52 | 53 | 54 | 55 |
F506_F508DUP | K550_W557del | K550_W557delKPMYEVQW | K550_K558del | K550_K559DEL | |
KIT | 56 | 57 | 58 | 59 | 60 |
P551_E554delPMYE | M552_W557DEL | Y553_W557DELYEVQW | Y553_K558DEL | DEL 554-558 | |
KIT | 61 | 62 | 63 | 64 | 65 |
V555_Q556DEL | V555_V559DEL | V555_I571DEL | V555_P573DEL | Q556_I571DEL | |
KIT | 66 | 67 | 68 | 69 | 70 |
W557_K558DELWK | W557_V559insC | W557_E561DEL | K558_V559del | V559_V560DEL | |
KIT | 71 | 72 | 73 | 74 | |
V560_L576DEL | V569_L576DEL | Y570_L576DEL | D579_H580insIDPTQLPYD | ||
KRAS | 1 | 2 | 3 | 4 | 5 |
G12D | G12C | G12V | G12S | G12A | |
KRAS | 6 | 7 | 8 | 9 | 10 |
G12R | G12 | G13D | G13C | G13V | |
KRAS | 11 | 12 | 13 | 14 | 15 |
G13R | G13S | Q22* | A59T | Q61H | |
KRAS | 16 | 17 | 18 | 19 | 20 |
Q61P | Q61L | Q61FS | Q61K | Q61R | |
KRAS | 21 | 22 | 23 | 24 | 25 |
Q61E | K117N | A146T | A146P | A146V | |
KRAS | 26 | ||||
G12/G13 | |||||
LYN | 1 | ||||
Y508F | |||||
MAP2K1 | 1 | 2 | 3 | 4 | 5 |
F53L | Q56P | K57T | C121S | E203K | |
MAP2K1 | 6 | 7 | 8 | ||
E102_I103delEI | C121S+G128D | 56_61QKQKVG>003eR | |||
MAP2K2 | 1 | ||||
F57C | |||||
MAPK1 | 1 | 2 | |||
E278E | E322K | ||||
MET | 1 | 2 | 3 | 4 | 5 |
MET-KIF5B fusion | EGFR T790M | D1010N | D1010H | D1010Y | |
MET | 6 | 7 | 8 | ||
D1028N | D1228V | D1228N | |||
MGMT | 1 | 2 | |||
PROMOTER METHYLATION | RS16906252 | ||||
MTHFR | 1 | 2 | |||
C677T | A1298C | ||||
MTOR | 1 | 2 | 3 | 4 | 5 |
H1968Y | A2034V | F2108L | P2213S | Q2223K | |
MTOR | 6 | 7 | |||
M2327I | E2014K+E2419K | ||||
MTRR | 1 | ||||
A66G | |||||
MYD88 | 1 | ||||
L265P | |||||
NAT2 | 1 | 2 | 3 | 4 | |
R64Q | I114N(c.341T>A) | R197Q(c.590G>A) | G286E(c.857G>A) | ||
NF1 | 1 | ||||
R163X | |||||
NF2 | 1 | ||||
K159FS*16 | |||||
NOTCH1 | 1 | ||||
L1678P | |||||
NPM1 | 1 | ||||
W288FS | |||||
NRAS | 1 | 2 | 3 | 4 | 5 |
G12D | G12S | G12C | G12V | G13R | |
NRAS | 6 | 7 | 8 | 9 | 10 |
G13C | G13D | G13V | Q61K | Q61R | |
NRAS | 11 | 12 | 13 | 14 | |
Q61 | Q61L | Q61H | Q179X | ||
NRG1 | 1 | 2 | 3 | ||
NRG1 fusion | SDC4-NRG1 | ATP1B1-NRG1 fusion | |||
NT5C2 | 1 | 2 | 3 | ||
K359Q | R367Q | D407A | |||
NTRK1 | 1 | 2 | 3 | 4 | 5 |
NTRK1 fusionS | LMNA-NTRK1 | SQSTM1-NTRK1 | NTRK1-DDR2 | NTRK1-GON4L | |
NTRK1 | 6 | 7 | 8 | 9 | 10 |
TMP3-NTRK1 | PDE4DIP-NTRK1 | NTRK1-TRIM63 | G595R | LMNA-NTRK1 G595R+G667C | |
NTRK2 | 1 | 2 | |||
NTRK2-STRN fusion | ETV6-NTRK2 | ||||
NTRK3 | 1 | 2 | 3 | 4 | 5 |
NTRK3 fusionS | ETV6-NTRK3 | ETV6-NTRK3 fusion | G623R | ETV6-NTRK3 G623R | |
PAPPA2 | 1 | ||||
Y1520X | |||||
PDGFB | 1 | ||||
EBF1-PDGFRB | |||||
PDGFRA | 1 | 2 | 3 | 4 | 5 |
TNKS2-PDGFRA | FIP1L1-PDGFRA | V561D | V561A | P577S | |
PDGFRA | 6 | 7 | 8 | 9 | 10 |
L579M | R841K | D842V | D842Y | D842I | |
PDGFRA | 11 | 12 | 13 | 14 | 15 |
I843DEL | H845Y | G853D | FIP1L1-PDGFRA T674I | W559_R560DELWR | |
PDGFRA | 16 | 17 | 18 | ||
DI842-843VM | DIM842_844DEL | D842_H845DELDIMH | |||
PDGFRB | 1 | 2 | 3 | 4 | |
EBF1-PDGFRB | ATF7IP-PDGFRB | AGGF1-PDGFRB, AGGF1-PDGFRB C843G | PDGFRB fusionS | ||
PIK3CA | 1 | 2 | 3 | 4 | 5 |
E81K | R93W | K111N | S158L | N345K | |
PIK3CA | 6 | 7 | 8 | 9 | 10 |
D350G | I391M | C420R | P471L | E542K | |
PIK3CA | 11 | 12 | 13 | 14 | 15 |
E542Q | E545K | E545D | E545G | E545Q | |
PIK3CA | 16 | 17 | 18 | 19 | 20 |
E545A | E545V | E545X | Q546K | Q546E | |
PIK3CA | 21 | 22 | 23 | 24 | 25 |
D549N | Y1021C | R1023Q | M1043I | H1047R | |
PIK3CA | 26 | 27 | 28 | 29 | 30 |
H1047Y | H1047L | H1047X | G1049R | G1049S | |
PIK3CA | 31 | ||||
G1049A | |||||
PIK3R2 | 1 | ||||
N561D | |||||
PML | 1 | 2 | 3 | ||
PML-RARA A216V | PML-RARA L218P | PML-RARA | |||
PMS2 | 1 | ||||
K706FS*19 | |||||
POLD1 | 1 | 2 | 3 | ||
C284Y | E374K | Y956N | |||
POLE4 | 1 | ||||
A59E | |||||
PPP1R15A | 1 | ||||
RS557806 | |||||
PREX2 | 1 | ||||
R172I | |||||
PTCH1 | 1 | 2 | 3 | 4 | |
Q17X | W170X | W712X | Q787X | ||
PTEN | 1 | 2 | 3 | ||
R130* | R233* | V317FS | |||
PTPRD | 1 | ||||
V253I | |||||
PXDNL | 1 | ||||
P1460T | |||||
RAC1 | 1 | ||||
P29S | |||||
RAD50 | 1 | ||||
L1237F | |||||
RAF1 | 1 | ||||
R391W | |||||
RET | 1 | 2 | 3 | 4 | 5 |
KIF5B-RET | CCDC6-RET | C634W | V804M | M918T | |
RET | 6 | 7 | |||
KIF5B-RET V804L | KIF5B-RET G810A | ||||
ROS1 | 1 | 2 | 3 | 4 | 5 |
TFG-ROS1 | S1986Y | S1986F | G2032R | D2033N | |
ROS1 | 6 | 7 | 8 | 9 | |
CD74-ROS1 L2026M | CD74-ROS1 G2032R | CD74-ROS1 G2101A | CD74-ROS1 L2155S | ||
SCN8A | 1 | ||||
Q225X | |||||
SERPING1 | 1 | ||||
3'UTR突变(c.*49=,C>A/G/T) | |||||
SF3B1 | 1 | 2 | |||
K666N | K700E | ||||
SLC26A4 | 1 | 2 | 3 | 4 | 5 |
IVS7-2A>G | c.281C>T | c.589G > A | c.1174A > T | 1226G>A | |
SLC26A4 | 6 | 7 | 8 | 9 | 10 |
c.1229C > T | 1975G>C | c.2027T > A | 2162C>T | c.2168A > G | |
SLC26A4 | 11 | 12 | |||
c.919-2A >G | c.1707+5 G>A | ||||
SLCO1B1 | 1 | 2 | |||
Asn130Asp(c.388 A>G) | Val174Ala(c.521 T>C) | ||||
SMO | 1 | 2 | 3 | 4 | 5 |
T241M | S278I | W281C | W281L | V321M | |
SMO | 6 | 7 | 8 | 9 | 10 |
I408V | L412F | A459V | C469Y | D473H | |
SMO | 11 | 12 | 13 | 14 | 15 |
D473G | D473Y | Q477E | G497W | S533N | |
SMO | 16 | ||||
W535L | |||||
STK11 | 1 | 2 | 3 | ||
LKB1 | D194E | F354L | |||
TP53 | 1 | 2 | 3 | 4 | 5 |
V157F | R158L | R158H | R175H | R213P | |
TP53 | 6 | 7 | 8 | 9 | 10 |
Y220C | M237I | G245S | R248Q | R248W | |
TP53 | 11 | 12 | 13 | 14 | 15 |
R249S | R273H | R273C | P278S | R280K | |
TP53 | 16 | 17 | |||
R280T | R282L | ||||
TPMT*2 | 1 | ||||
A80P(238G>C) | |||||
TPMT*3A | 1 | 2 | |||
Ala154Thr(460G>A) | Tyr240Cys(719A>G) | ||||
TPMT*3B | 1 | ||||
Ala154Thr(460G>A) | |||||
TPMT*3C | 1 | ||||
Tyr240Cys(719A>G) | |||||
TSC1 | 1 | ||||
FRAMESHIFT TRUNCATION | |||||
TSC2 | 1 | ||||
Q1178* | |||||
UGT1A1 | 1 | 2 | |||
UGT1A1*28 | UGT1A1*60 | ||||
UGT1A1*6 | 1 | ||||
G71R(211G>A) | |||||
VHL | 1 | 2 | |||
N78S (c.233A>003eG) | R200W (c.598C>003eT) | ||||
VKORC1 | 1 | ||||
启动子区(-1639 G>A) | |||||
WEE1 | 1 | ||||
RS3910384 | |||||
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