Introduction

Format

Genomic DNA

Description

包含常見(jiàn)基因的重要位點(diǎn)，涉及EGFR/BRAF/PIK3CA/ERBB2/KRAS等基因

Method

Gene

AA Change

CDS Change

Cosmic ID

Chr position (GRCh37)

ddPCR

528-GenePanel

425-GenePanel

1000xWES

EGFR

p.E746_A750delELREA

c.2235_2249del15 GGAATTAAGAGAAGC>-

COSM6223

chr7:55242465_55242479

1.85%

1.75%

0.63%

N/A

EGFR

p.G719A

c.2156G>C

COSM6239

chr7:55241708

5.78%

4.68%

4.85%

6.00%

EGFR

p.S768I

c.2303G>T

COSM6241

chr7:55249005

2.68%

2.55%

3.05%

N/A

EGFR

p.T790M

c.2369C>T

COSM6240

chr7:55249071

3.00%

3.79%

2.65%

N/A

EGFR

p.L858R

c.2573T>G

COSM6224

chr7:55259515

1.74%

1.71%

2.83%

4.33%

ERBB2

p.A775_G776insYVMA

c.2324_2325ins12 ATACGTGATGGC

COSM20959

chr17:37880995_37880996

2.55%

2.35%

1.72%

N/A

KRAS

p.G13D

c.38G>A

COSM532

chr12:25398281

8.66%

6.86%

8.33%

6.73%

BRAF

p.V600E

c.1799T>A

COSM476

chr7:140453136

41.48%

42.65%

43.96%

40.79%

PIK3CA

p.H1047R

c.3140A>G

COSM775

chr3:178952085

34.17%

28.96%

33.14%

33.14%

BRCA1

p.D435Y

c.1303G>T

COSM3190122

chr17:41246245

28.77%

25.72%

24.03%

31.21%

BRCA2

p.N1784fs

c.5351delA

COSM18607

chr13:32913837

29.28%

28.75%

 24.34%

 N/A

BRCA2

p.I2675fs*6

c.8015_8016insA

COSM2071519

chr13:32937360

11.87%

10.37%

11.16%

8.41%

CTNNB1

p.S45del

c.131_133delCTT

COSM6128

chr3:41266136_41266138

8.51%

6.48%

7.28%

8.11%

APC

p.K1454E

c.4360A>G

COSM27993

chr5:112175651

26.08%

26.32%

26.37%

N/A

FGFR2

p.P583L

c.1748C>T

COSM1675615

chr10:123256164

7.74%

 8.42%

 8.69%

12.10%

IDH2

p.G190D

c.569G>A

COSM2139737

chr15:90631700

26.98%

26.48%

27.18%

30.77%

MSI Inspection Data

Product Information　

Intended Use

Research Use Only

Unit Size

1ug/vial * 1 vial

Concentration

Download for COA

Purity

Download for COA

DNA electrophoresis

Download for COA

Storage

2-8°C

Expiry

36 months from the date of manufacture