名称 | Panel-Ref® HRR-Related-28 Gene Cocktail Refer |
型号 | CBP90021 |
报价 | |
特点 | Panel-Ref® GIST Cancer Reference Standard |
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联系人:蒋经理
电话:4008750250
号码:
手机:18066071954
地址:南京市栖霞区纬地路9号
Email: zhangxiangwen@cobioer.com
电话:4008750250
号码:
手机:18066071954
地址:南京市栖霞区纬地路9号
Email: zhangxiangwen@cobioer.com
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- 详细内容
Panel-Ref® HRR-Related-28 Gene Cocktail Reference Standard | ||||||||
Cat No. | CBP90021 | |||||||
Test Method | 1000x WES+部分位点DdPCR | |||||||
Description | HRR途径相关的28种基因 | |||||||
Gene | Variant Classification | Protein Change | CDS Change | %AF | Clinical significance | %DdPCR | Cosmic ID | Chr position (GRCh37) |
ATM | frameshift_variant | p.Q628fs | c.1880dupT | 21.57 | Pathogenic | 18 | N/A | chr11:108123616 |
ATM | missense_variant | p.N1983S | c.5948A>G | 99.85 | Benign | N/A | N/A | chr11:108183167 |
ATM | missense_variant | p.A2843V | c.8528C>T | 21.45 | Likely Pathogenic | N/A | N/A | chr11:108216579 |
ATR | missense_variant | p.R2425Q | c.7274G>A | 24.38 | Benign | N/A | COSM149485 | chr3:142178144 |
ATR | splice_region_variant | N/A | c.6552+5A>G | 5.7 | Uncertain Significance | N/A | N/A | chr3:142188174 |
ATR | intron_variant | N/A | c.4153-11_4153-10delTT | 20.97 | Uncertain Significance | N/A | COSM1617014 | chr3:142241703..142241704 |
ATR | frameshift_variant | p.I774Yfs*5 | c.2320delA | 19.835 | Uncertain Significance | N/A | COSM214499 | chr3:142274749 |
ATR | missense_variant | p.L711F | c.2131C>T | 3.39 | Likely Benign | N/A | N/A | chr3:142274929 |
ATR | synonymous_variant | p.D564= | c.1692T>C | 24.62 | Likely Benign | N/A | N/A | chr3:142278133 |
BARD1 | missense_variant | p.A724T | c.2170G>A | 8.135 | Uncertain Significance | N/A | COSM1669728 | chr2:215593564 |
BARD1 | missense_variant | p.V507M | c.1519G>A | 56.205 | Benign | N/A | COSM3757929 | chr2:215632255 |
BARD1 | synonymous_variant | p.H506= | c.1518T>C | 70.16 | Benign | N/A | COSM7131995 | chr2:215632256 |
BARD1 | missense_variant | p.R378S | c.1134G>C | 57.365 | Benign | N/A | COSM3757931 | chr2:215645464 |
BARD1 | missense_variant | p.P24S | c.70C>T | 56.915 | Benign | N/A | COSM442275 | chr2:215674224 |
BLM | missense_variant | p.A603V | c.1808C>T | 20.905 | Uncertain Significance | N/A | N/A | chr15:91304411 |
BLM | synonymous_variant | p.Q615= | c.1845A>G | 21.985 | Likely Benign | N/A | N/A | chr15:91304448 |
BLM | frameshift_variant | p.H660Qfs*2 | c.1979dupA | 21.585 | Pathogenic | 19.9 | N/A | chr15:91306292 |
BLM | synonymous_variant | p.G921= | c.2763C>T | 22.105 | Likely Benign | N/A | N/A | chr15:91328251 |
BLM | synonymous_variant | p.T1034= | c.3102G>A | 31.655 | Benign | N/A | N/A | chr15:91337479 |
BLM | synonymous_variant | p.A1177= | c.3531C>A | 36.99 | Benign | N/A | N/A | chr15:91346923 |
BLM | synonymous_variant | p.L1315= | c.3945C>T | 34.21 | Benign | N/A | N/A | chr15:91354505 |
BRCA1 | missense_variant | p.S663N | c.1988G>A | 12.96 | Uncertain Significance | 19 | COSM3190090 | chr17:41245560 |
BRCA1 | missense_variant | p.S1634G | c.4900A>G | 46.035 | Benign | 58.18 | COSM3755559 | chr17:41223094 |
BRCA1 | synonymous_variant | p.S1436= | c.4308T>C | 48.82 | Benign | N/A | COSM4416374 | chr17:41234470 |
BRCA1 | missense_variant | p.K1183R | c.3548A>G | 47.325 | Benign | 54.21 | COSM148277 | chr17:41244000 |
BRCA1 | missense_variant | p.E1038G | c.3113A>G | 46.345 | Benign | N/A | COSM3755562 | chr17:41244435 |
BRCA1 | missense_variant | p.P871L | c.2612C>T | 63.68 | Benign | 57.03 | COSM148278 | chr17:41244936 |
BRCA1 | synonymous_variant | p.L771= | c.2311T>C | 48.71 | Benign | N/A | COSM3755565 | chr17:41245237 |
BRCA1 | synonymous_variant | p.S694= | c.2082C>T | 47.16 | Benign | N/A | N/A | chr17:41245466 |
BRCA2 | missense_variant | p.A487V | c.1460C>T | 15.96 | Uncertain Significance | 20.7 | COSM1677593 | chr13:32907075 |
BRCA2 | missense_variant | p.N289H | c.865A>C | 29.71 | Benign | 37.64 | COSM3999066 | chr13:32906480 |
BRCA2 | synonymous_variant | p.S455= | c.1365A>G | 35.89 | Benign | N/A | COSM3999068 | chr13:32906980 |
BRCA2 | splice_donor_variant | N/A | c.1909+2T>C | 18.955 | Pathogenic | 20.41 | N/A | chr13:32907526 |
BRCA2 | synonymous_variant | p.H743= | c.2229T>C | 34.535 | Benign | N/A | COSM5019762 | chr13:32910721 |
BRCA2 | missense_variant | p.N991D | c.2971A>G | 34.72 | Benign | 38.09 | COSM4986759 | chr13:32911463 |
BRCA2 | frameshift_variant | p.N1287Ifs*6 | c.3860delA | 19.925 | Pathogenic | 18.4 | COSM29753 | chr13:32912352 |
BRCA2 | missense_variant | p.D1476G | c.4427A>G | 20.89 | Likely Pathogenic | 17.3 | COSM2071387 | chr13:32912919 |
BRCA2 | synonymous_variant | p.L1521= | c.4563A>G | 99.94 | Benign | N/A | COSM9180822 | chr13:32913055 |
BRCA2 | missense_variant | p.R2784Q | c.8351G>A | 12.78 | Pathogenic | 18.7 | N/A | chr13:32944558 |
BRCA2 | missense_variant | p.V2014E | c.6041T>A | 23.005 | Likely Pathogenic | N/A | N/A | chr13:32914533 |
BRCA2 | synonymous_variant | p.V2171= | c.6513G>C | 99.93 | Benign | N/A | COSM4147689 | chr13:32915005 |
BRCA2 | missense_variant | p.V2466A | c.7397T>C | 99.895 | Benign | 99.69 | COSM7335572 | chr13:32929387 |
BRCA2 | stop_gained | p.Q2934* | c.8800C>T | 23.2 | Pathogenic | 20.2 | N/A | chr13:32953499 |
BRIP1 | missense_variant | p.N933I | c.2798A>T | 18.63 | Uncertain Significance | N/A | COSM2793759 | chr17:59763304 |
BRIP1 | synonymous_variant | p.E879= | c.2637A>G | 99.595 | Benign | N/A | N/A | chr17:59763465 |
CDK12 | missense_variant | p.R300K | c.899G>A | 21.325 | Uncertain Significance | N/A | N/A | chr17:37619223 |
CDK12 | missense_variant | p.I873N | c.2618T>A | 17.705 | Uncertain Significance | N/A | N/A | chr17:37665966 |
CHEK1 | synonymous_variant | p.Y390= | c.1170T>C | 22.57 | Likely Benign | N/A | N/A | chr11:125514475 |
CHEK1 | missense_variant | p.I471V | c.1411A>G | 100 | Benign | N/A | N/A | chr11:125525195 |
CHEK2 | splice_donor_variant | N/A | c.721+2T>C | 22.06 | Pathogenic | 19.2 | COSM2935990 | chr22:29120963 |
CHEK2 | missense_variant | p.R188W | c.562C>T | 13.165 | Pathogenic | 18.6 | COSM2935997 | chr22:29121242 |
FANCA | synonymous_variant | p.P1218= | c.3654A>G | 24.475 | Benign | N/A | COSM4416265 | chr16:89809319 |
FANCA | splice_region_variant | N/A | c.3067-4T>C | 23.625 | Benign | N/A | COSM5021114 | chr16:89816314 |
FANCA | synonymous_variant | p.S967= | c.2901C>T | 21.5 | Benign | N/A | COSM3999984 | chr16:89825065 |
FANCA | splice_region_variant | N/A | c.2779-7T>C | 22.005 | Benign | N/A | COSM3999985 | chr16:89828437 |
FANCA | missense_variant | p.P643A | c.1927C>G | 18.555 | Benign | N/A | COSM5021046 | chr16:89839766 |
FANCA | missense_variant | p.G501S | c.1501G>A | 66.755 | Benign | N/A | COSM4984954 | chr16:89849480 |
FANCA | synonymous_variant | p.T381= | c.1143G>T | 24.555 | Benign | N/A | COSM3999986 | chr16:89858417 |
FANCA | splice_region_variant | N/A | c.894-8A>G | 24.575 | Benign | N/A | COSM4416092 | chr16:89862434 |
FANCA | missense_variant | p.S208L | c.623C>T | 24.47 | Uncertain Significance | N/A | COSM5754957 | chr16:89871774 |
FANCC | missense_variant | p.G307V | c.920G>T | 19.015 | Uncertain Significance | N/A | N/A | chr9:97887444 |
FANCC | missense_variant | p.A158V | c.473C>T | 16.975 | Likely Benign | N/A | COSM2733054 | chr9:97933409 |
FANCC | synonymous_variant | p.S156= | c.468A>G | 16.285 | Likely Benign | N/A | N/A | chr9:97933414 |
FANCD2 | synonymous_variant | p.Y425= | c.1275C>T | 14.935 | Likely Benign | N/A | COSM1417229 | chr3:10088404 |
FANCD2 | splice_donor_variant | N/A | c.1278+3_1278+6delAAGT | 13.87 | Uncertain Significance | N/A | COSM2915288 | chr3:10088410_10088413 |
FANCF | synonymous_variant | p.L111= | c.331C>T | 2.375 | Likely Benign | N/A | N/A | chr11:22647026 |
FANCI | synonymous_variant | p.K849= | c.2547G>A | 99.9 | Benign | N/A | N/A | chr15:89838236 |
FANCL | missense_variant | p.A299T | c.895G>A | 21.065 | Likely Benign | N/A | N/A | chr2:58390024 |
FANCL | intron_variant | N/A | c.791-10delT | 25.73 | Uncertain Significance | N/A | N/A | chr2:58390219 |
FANCM | synonymous_variant | p.L42= | c.126G>A | 2.01 | Likely Benign | N/A | N/A | chr14:45605360 |
FANCM | splice_region_variant | N/A | c.1788+6T>C | 22.375 | Uncertain Significance | N/A | N/A | chr14:45633774 |
FANCM | missense_variant | p.V878L | c.2632G>T | 39.685 | Benign | N/A | COSM3753964 | chr14:45644589 |
FANCM | frameshift_variant | p.Q1333Tfs*11 | c.3996_3997insA | 18.86 | Likely Pathogenic | N/A | N/A | chr14:45645953_45645954 |
FANCM | missense_variant | p.S1949T | c.5845T>A | 19.725 | Uncertain Significance | N/A | N/A | chr14:45667975 |
FANCM | missense_variant | p.M2010V | c.6028A>G | 20.895 | Uncertain Significance | 18.9 | N/A | chr14:45669092 |
MRE11A | splice_region_variant | N/A | c.1867+6T>C | 17.2 | Uncertain Significance | N/A | N/A | chr11:94178970 |
MRE11A | splice_region_variant | N/A | c.315-5_315-4delTT | 27.945 | Uncertain Significance | N/A | COSM3728955 | chr11:94212940_94212941 |
NBN | intron_variant | N/A | c.1398-10delT | 19.56 | Uncertain Significance | N/A | COSM1258762 | chr8:90965937 |
NBN | synonymous_variant | p.L34= | c.102G>A | 34.07 | Benign | N/A | COSM3763444 | chr8:90995019 |
NBN | intron_variant | N/A | c.38-10_38-9insA | 17.625 | Uncertain Significance | N/A | N/A | chr8:90995093_90995092 |
PALB2 | stop_gained | p.G808* | c.2422G>T | 15.005 | Pathogenic | 21.05 | COSM1678936 | chr16:23641053 |
PPP2R2A | missense_variant | p.C249Y | c.746G>A | 16.335 | Uncertain Significance | N/A | N/A | chr8:26220278 |
RAD50 | frameshift_variant | p.K722Rfs*14 | c.2165delA | 20.43 | Pathogenic | N/A | COSM1433045 | chr5:131931460 |
RAD51B | missense_variant | p.R348G | c.1042A>G | 25.77 | Likely Benign | N/A | N/A | N/A |
RAD51C | missense_variant | p.T287A | c.859A>G | 10.79 | Benign | N/A | COSM9494459 | chr17:56798128 |
RAD51D | synonymous_variant | p.V66= | c.198G>T | 21.21 | Likely Benign | N/A | N/A | N/A |
RAD52 | missense_variant | p.R253C | c.757C>T | 22.585 | Uncertain Significance | N/A | N/A | chr12:1025670 |
RAD52 | splice_region_variant | N/A | c.348+7_348+8insA | 34.44 | Uncertain Significance | N/A | N/A | chr12:1038978_1038977 |
RAD54L | missense_variant | p.R587W | c.1759C>T | 12.65 | Likely Benign | N/A | N/A | chr1:46740279 |
RPA1 | missense_variant | p.A128V | c.383C>T | 22.53 | Uncertain Significance | N/A | N/A | chr17:1775749 |
RPA1 | synonymous_variant | p.S352= | c.1056C>T | 43.09 | Benign | N/A | COSM6354194 | chr17:1782957 |
RPA1 | frameshift_variant | p.E363Kfs*60 | c.1087delG | 19.995 | Pathogenic | N/A | N/A | chr17:1782988 |
RPA1 | synonymous_variant | p.S535= | c.1605T>C | 39.92 | Benign | N/A | COSM4000039 | chr17:1795180 |
To get the complete informations of 1000x WES, please contact us. | ||||||||
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 |