Panel-Ref® gDNA All-in-One Reference Standard Plus |
|
Cat No. | RQP90043 |
|
Format |
Genomic DNA |
|
Description |
Pan-tumor large panel standard Panel-Ref® gDNA All-in-One Reference Standard Plus;, which is a reference material, quality control material, and standard material designed for large panel genes, can be used for QC verification of the detection process. Including accuracy, repeatability, detection limit, etc. |
|
Validate genes |
1000x WES: >5000 |
|
425 gene-panel: >200 |
|
528 gene-panel: >250 |
|
ddPCR: >50 |
|
Verification site |
1000x WES: >7000 |
|
425 gene-panel: >300 |
|
528 gene-panel: >450 |
|
ddPCR: 82 |
|
MSI |
MSI-H:NGS 92.31%,PCR 100%MSI; |
|
TMB |
415.0 mutations/Mb |
|
MMR |
MLH1 p.L323M exon 11 missense mutation; |
|
MLH1 p.S252* exon 9 nonsense mutation; |
|
MLH1 p.K618Del non-frameshift deletion mutation in exon 16; |
|
MSH6 p.Y1066* nonsense mutation in exon 5; |
|
PMS2 p.D414Tfs*34 exon 11 frameshift mutation; |
|
etc. |
|
425 gene-Panel、528 gene-Panel、DdPCR and WES 1000X |
|
|
%AF range |
1-100% |
|
Concentration |
40 ng/uL±10% |
|
Data |
lick to dowload |
|
1000x WES |
|
425 gene-panel(Cooperators' Panel) |
|
528 gene-panel(Cobioers' Panel) |
|
DdPCR |
|
|
|
|
Chr position(GRCh37) |
|
|
|
|
Gene |
AA Change |
CDS Change |
Method |
ddPCR |
528-GenePanel |
425-GenePanel |
1000xWES |
EGFR |
G719A |
c.2156G>C |
chr7:55241708 |
5.78% |
4.68% |
4.85% |
6.00% |
EGFR |
C797S |
c.2390G>C |
chr7:55249092 |
4.01% |
4.26% |
3.80% |
N/A |
EGFR |
E746_A750del |
c.2235_2249del15 GGAATTAAGAGAAGC>- |
chr7:55242465_55242479 |
1.85% |
1.75% |
0.63% |
N/A |
EGFR |
S768I |
c.2303G>T |
chr7:55249005 |
2.68% |
2.55% |
3.05% |
N/A |
ERBB2 |
A775_G776insYVMA |
c.2324_2325ins12ATACGTGATGGC |
chr17:37880995_37880996 |
2.55% |
2.35% |
1.72% |
N/A |
MET |
c.3082+1G>T |
c.3082+1G>T |
chr7:116412044 |
2.71% |
2.57% |
1.98% |
N/A |
ROS1 |
CD74-ROS1 |
CD74-ROS1 |
|
2.08% |
N/A |
N/A |
N/A |
PDGFRA |
D842V |
c.2525A>T |
chr4:55152093 |
1.58% |
2.52% |
2.85% |
N/A |
KRAS |
Q61H |
c.183A>T |
chr12:25380275 |
4.57% |
4.87% |
4.43% |
3.96% |
KRAS |
A146T |
c.436G>A |
chr12:25378562 |
2.59% |
3.07% |
2.69% |
3.25% |
C-KIT |
D816V |
c.2447A>T |
chr4:55599321 |
2.20% |
3.78% |
4.15% |
2.99% |
NRAS |
G12D |
c.35G>A |
chr1:115258747 |
6.54% |
5.79% |
6.33% |
7.12% |
FLT3 |
I836DEL |
c.2508_2510delCAT |
chr13:28592637_28592639 |
4.78% |
N/A |
3.71% |
3.62% |
IDH2 |
R172K |
c.515G>A |
chr15:90631838 |
4.65% |
3.35% |
3.74% |
4.33% |
FGFR3 |
S249C |
c.746C>G |
chr4:1803568 |
3.09% |
2.56% |
2.47% |
N/A |
AKT1 |
E17K |
c.49G>A |
chr14:105246551 |
4.64% |
3.21% |
5.50% |
4.48% |
EGFR |
T790M |
c.2369C>T |
chr7:55249071 |
3.00% |
3.79% |
2.65% |
N/A |
EGFR |
L858R |
c.2573T>G |
chr7:55259515 |
5.07% |
1.71% |
2.83% |
4.33% |
IDH2 |
R140Q |
c.419G>A |
chr15:90631934 |
2.65% |
3.44% |
4.27% |
N/A |
BTK |
C481S |
c.1442G>C |
chrX:100611164 |
3.16% |
2.20% |
2.70% |
3.50% |
KRAS |
G13D |
c.38G>A |
chr12:25398281 |
8.66% |
6.86% |
8.33% |
6.73% |
BRCA2 |
I2675FS |
c.8021dup |
chr13:32937354 |
11.87% |
10.37% |
11.16% |
8.41% |
BRAF |
V600E |
c.1799T>A |
chr7:140453136 |
43.55% |
42.65% |
43.96% |
40.79% |
PIK3CA |
H1047R |
c.3140A>G |
chr3:178952085 |
31.74% |
28.96% |
33.14% |
33.14% |
NRAS |
Q61K |
c.181C>A |
chr1:115256530 |
12.81% |
13.92% |
12.52% |
14.76% |
IDH1 |
R132C |
c.394C>T |
chr2:209113113 |
14.15% |
13.02% |
15.61% |
11.86% |
BRCA1 |
D435Y |
c.1303G>T |
chr17:41246245 |
28.77% |
25.72% |
24.03% |
31.21% |
BRCA2 |
N1784fs |
c.5351delA |
chr13:32913837 |
29.28% |
28.75% |
24.34% |
N/A |
CTNNB1 |
S45del |
c.133_135delTCT |
chr3:41266134_41266136 |
8.51% |
6.48% |
7.28% |
8.11% |
FANCA |
345Vfs*63 |
c.1034_1035del |
chr16:89858927_89858928 |
24.50% |
27.05% |
19.18% |
N/A |
GATA2 |
G200Vfs |
c.599del |
chr3:128204842 |
4.78% |
N/A |
5.05% |
5.61% |
BCORL1 |
P1681Qfs |
c.5042del |
chrX:129190011 |
48.11% |
47.70% |
N/A |
N/A |
RUNX1 |
M267I |
c.801G>A |
chr21:36206711 |
8.59% |
7.73% |
7.44% |
7.59% |
APC |
K1454E |
c.4360A>G |
chr5:112175651 |
26.08% |
26.32% |
26.37% |
N/A |
IDH2 |
G190D |
c.569G>A |
chr15:90631700 |
26.98% |
26.48% |
27.18% |
30.77% |
EZH2 |
E169K |
c.505G>A |
chr7:148525952 |
21.57% |
23.26% |
N/A |
16.20% |
FANCA |
P615Hfs |
c.1844del |
chr16:89842206 |
7.92% |
7.75% |
6.73% |
7.49% |
KMT2A |
P773Rfs*8 |
c.2318del |
chr11:118344186 |
28.95% |
27.03% |
26.61% |
N/A |
MSH6 |
Y1066* |
c.3198_3199del |
chr2:48030582 |
4.86% |
4.66% |
5.09% |
3.80% |
NF1 |
N2341Tfs*5 |
c.7022del |
chr17:29667620 |
26.79% |
25.38% |
22.94% |
19.50% |
ARID1A |
P1115Qfs*46 |
c.3344del |
chr1:27097751 |
27.74% |
26.36% |
19.94% |
28.21% |
PPP2R1A |
R183P |
c.548G>C |
chr19:52715983 |
8.03% |
4.77% |
8.33% |
6.27% |
MLH3 |
K585Rfs |
c.1754_1755del |
chr14:75514604 |
26.80% |
N/A |
25.15% |
N/A |
NF1 |
Y628Tfs*3 |
c.1882del |
chr17:29552144 |
27.12% |
23.94% |
26.42% |
24.08% |
ARID1A |
D1850Tfs*33 |
c.5548del |
chr1:27105931 |
26.88% |
26.79% |
24.78% |
N/A |
MLH1 |
S252* |
c.755C>A |
chr3:37056000 |
17.49% |
16.73% |
12.92% |
14.79% |
MSH6 |
T1085Hfs*8 |
c.3261dup |
chr2:48030639 |
5.62% |
N/A |
N/A |
N/A |
TSC2 |
Y602H |
c.1804T>C |
chr16:2120544 |
27.03% |
26.11% |
26.80% |
24.92% |
TSC2 |
V805I |
c.2413G>A |
chr16:2124258 |
27.49% |
25.43% |
25.27% |
22.11% |
TET1 |
N1611Tfs*13 |
c.4832del |
chr10:70441157 |
27.79% |
22.83% |
N/A |
N/A |
BCOR |
R1209Tfs*7 |
c.3624dup |
chrX:39923086 |
11.45% |
12.06% |
N/A |
10.00% |
FGFR2 |
P583L |
c.1748C>T |
chr10:123256164 |
7.74% |
8.42% |
8.69% |
12.10% |
CDH1 |
H121Tfs*94 |
c.360del |
chr16:68835766 |
9.17% |
7.05% |
9.27% |
11.01% |
NF1 |
P678Rfs*10 |
c.2033del |
chr17:29553478 |
9.24% |
N/A |
8.19% |
N/A |
MSH3 |
K383Rfs*32 |
c.1148del |
chr5:79970915 |
72.42% |
N/A |
N/A |
N/A |
ABL1 |
Y257C |
c.770A>G |
chr9:133738370 |
7.17% |
6.64% |
N/A |
5.72% |
IDH1 |
S261L |
c.782C>T |
chr2:209106786 |
7.29% |
9.55% |
8.13% |
9.46% |
ABL1 |
F747I |
c.2239T>A |
chr9:133759916 |
4.03% |
4.54% |
N/A |
3.35% |
AR |
T306I |
c.917C>T |
chrX:66765905 |
36.53% |
37.38% |
35.04% |
37.99% |
KMT2A |
D877Pfs*8 |
c.2629_2630del |
chr11:118344494 |
26.95% |
27.11% |
23.73% |
N/A |
ATRX |
T1529del |
c.4586_4588del |
chrX:76891517 |
10.43% |
11.71% |
10.54% |
11.58% |
CDKN2A |
G23fs |
c.68dup |
chr9:21974758 |
12.77% |
N/A |
8.85% |
10.99% |
CDKN2A |
E33fs |
c.97del |
chr9:21994234 |
12.53% |
14.05% |
12.07% |
10.09% |
GATA3 |
P127Rfs*68 |
c.380del |
chr10:8100403 |
3.77% |
N/A |
3.06% |
5.61% |
MLH1 |
K618del |
c.1852_1854del |
chr3:37089123 |
4.75% |
N/A |
3.48% |
N/A |
ERCC5 |
c.2533+2T>C |
c.2533+2T>C |
chr13:103519197 |
8.01% |
8.62% |
7.10% |
8.76% |
EP300 |
K292Rfs*25 |
c.875del |
chr22:41522009 |
26.98% |
25.85% |
22.87% |
27.24% |
CREBBP |
c.1824-2A>G |
c.1824-2A>G |
chr16:3828820 |
26.72% |
28.95% |
30.92% |
43.48% |
B2M |
R117* |
c.349C>T |
chr15:45008529 |
27.75% |
25.07% |
24.19% |
26.47% |
PMS2 |
D414Tfs*3 |
c.1239del |
chr7:6027157 |
22.04% |
16.40% |
19.30% |
N/A |
SMARCA4 |
Y120Sfs*9 |
c.363dup |
chr19:11096868 |
8.66% |
8.53% |
8.81% |
12.72% |
EP300 |
M1470Cfs*26 |
c.4408del |
chr22:41566525 |
36.20% |
35.37% |
32.22% |
N/A |
EP300 |
N1700Tfs*9 |
c.5099del |
chr22:41572810 |
8.43% |
8.18% |
9.43% |
7.41% |
KMT2D |
G3465* |
c.10393G>T |
chr12:49428412 |
27.42% |
23.06% |
N/A |
23.05% |
KMT2D |
P2550Lfs*33 |
c.7649del |
chr12:49428412 |
26.82% |
26.44% |
N/A |
26.92% |
MEF2B |
V316Sfs*6 |
c.944dup |
chr19:19256768 |
26.33% |
N/A |
17.49% |
N/A |
KMT2D |
G1960Afs*87 |
c.5879del |
chr12:49436102 |
4.80% |
5.19% |
N/A |
7.69% |
ASXL1 |
G645Vfs*58 |
c.1926del |
chr20:32434639 |
21.95% |
N/A |
N/A |
N/A |
ASXL1 |
G646Wfs*12 |
c.1934dup |
chr20:31022441 |
8.84% |
22.80% |
8.60% |
N/A |
c-MYC |
AMP |
AMP |
|
3.33 |
N/A |
N/A |
N/A |
RAC1 |
N92I |
c.275A>T |
chr7:6439806 |
13.67% |
14.26% |
18.09% |
14.81% |
ACVR2A |
K437Rfs*5 |
c.1310delA |
chr2:148683686 |
62.45% |
N/A |
N/A |
N/A |
|
|
|
|
|
|
|
|
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 |
4°C |
|
Expiry |
36 months from the date of manufacture |
|