Panel-Ref? HRR-Related-28 Gene Cocktail Reference Standard
CBP90044
詢 價(jià)
索取COA
產(chǎn)品描述
產(chǎn)品數(shù)據(jù)庫
| Introduction | |||||
| Test Method | 1000x WES+部分位點(diǎn)DdPCR | ||||
| Description | HRR途徑相關(guān)的28種基因 | ||||
| Gene | Protein Change | CDS Change | AF-NGS | AF-ddPCR | Clinical significance |
| ATM | p.Q628fs | c.1880dupT | 22.40% | 21.70% | Pathogenic |
| ATM | p.N1983S | c.5948A>G | 99.93% | N/A | Benign |
| ATM | p.A2843V | c.8528C>T | 19.51% | N/A | Likely Pathogenic |
| ATR | p.R2425Q | c.7274G>A | 20.82% | N/A | Benign |
| ATR | N/A | c.6552+5A>G | 5.54% | N/A | Uncertain Significance |
| ATR | N/A | c.4153-11_4153-10delTT | 17.00% | 18.90% | Uncertain Significance |
| ATR | p.I774Yfs*5 | c.2320delA | 24.88% | N/A | Uncertain Significance |
| ATR | p.L711F | c.2131C>T | 3.55% | N/A | Likely Benign |
| ATR | p.D564= | c.1692T>C | 19.36% | N/A | Likely Benign |
| BARD1 | p.A724T | c.2170G>A | 11.25% | N/A | Uncertain Significance |
| BARD1 | p.V507M | c.1519G>A | 65.39% | N/A | Benign |
| BARD1 | p.H506= | c.1518T>C | 87.49% | N/A | Benign |
| BARD1 | p.R378S | c.1134G>C | 67.73% | N/A | Benign |
| BARD1 | p.P24S | c.70C>T | 65.48% | N/A | Benign |
| BLM | p.A603V | c.1808C>T | 19.77% | N/A | Uncertain Significance |
| BLM | p.Q615= | c.1845A>G | 21.37% | N/A | Likely Benign |
| BLM | p.H660Qfs*2 | c.1979dupA | 22.32% | 21.70% | Pathogenic |
| BLM | p.G921= | c.2763C>T | 17.63% | N/A | Likely Benign |
| BLM | p.T1034= | c.3102G>A | 41.77% | N/A | Benign |
| BLM | p.A1177= | c.3531C>A | 39.14% | N/A | Benign |
| BLM | p.L1315= | c.3945C>T | 42.43% | N/A | Benign |
| BRCA1 | p.S663N | c.1988G>A | 20.06% | N/A | Uncertain Significance |
| BRCA1 | p.S1634G | c.4900A>G | 63.98% | 59.90% | Benign |
| BRCA1 | p.S1436= | c.4308T>C | 60.76% | N/A | Benign |
| BRCA1 | p.K1183R | c.3548A>G | 61.42% | 62.70% | Benign |
| BRCA1 | p.E1038G | c.3113A>G | 66.25% | N/A | Benign |
| BRCA1 | p.P871L | c.2612C>T | 70.89% | 70.70% | Benign |
| BRCA1 | p.L771= | c.2311T>C | 66.45% | N/A | Benign |
| BRCA1 | p.S694= | c.2082C>T | 64.64% | 61.90% | Benign |
| BRCA2 | p.A487V | c.1460C>T | 19.13% | 21.20% | Uncertain Significance |
| BRCA2 | p.N289H | c.865A>C | 39.45% | 42.30% | Benign |
| BRCA2 | p.S455= | c.1365A>G | 44.47% | 42.10% | Benign |
| BRCA2 | N/A | c.1909+2T>C | 19.93% | 21.00% | Pathogenic |
| BRCA2 | p.H743= | c.2229T>C | 44.94% | N/A | Benign |
| BRCA2 | p.N991D | c.2971A>G | 42.44% | 42.70% | Benign |
| BRCA2 | p.N1287Ifs*6 | c.3860delA | 20.29% | 21.00% | Pathogenic |
| BRCA2 | p.D1476G | c.4427A>G | 20.94% | 20.20% | Likely Pathogenic |
| BRCA2 | p.L1521= | c.4563A>G | 100.00% | N/A | Benign |
| BRCA2 | p.R2784Q | c.8351G>A | 19.35% | 19.60% | Pathogenic |
| BRCA2 | p.V2014E | c.6041T>A | 20.34% | N/A | Likely Pathogenic |
| BRCA2 | p.V2171= | c.6513G>C | 100.00% | N/A | Benign |
| BRCA2 | p.V2466A | c.7397T>C | 99.93% | 100.00% | Benign |
| BRCA2 | p.Q2934* | c.8800C>T | 20.85% | 21.40% | Pathogenic |
| BRIP1 | p.N933I | c.2798A>T | 17.19% | N/A | Uncertain Significance |
| BRIP1 | p.E879= | c.2637A>G | 100.00% | N/A | Benign |
| CDK12 | p.R300K | c.899G>A | 20.66% | N/A | Uncertain Significance |
| CDK12 | p.I873N | c.2618T>A | 21.51% | N/A | Uncertain Significance |
| CHEK1 | p.Y390= | c.1170T>C | 19.17% | N/A | Likely Benign |
| CHEK1 | p.I471V | c.1411A>G | 100.00% | N/A | Benign |
| CHEK2 | N/A | c.721+2T>C | 20.41% | 21.80% | Pathogenic |
| CHEK2 | p.R188W | c.562C>T | 20.76% | 20.80% | Pathogenic |
| FANCA | p.P1218= | c.3654A>G | 24.45% | N/A | Benign |
| FANCA | N/A | c.3067-4T>C | 23.56% | N/A | Benign |
| FANCA | p.S967= | c.2901C>T | 22.71% | N/A | Benign |
| FANCA | N/A | c.2779-7T>C | 21.82% | N/A | Benign |
| FANCA | p.P643A | c.1927C>G | 15.81% | N/A | Benign |
| FANCA | p.G501S | c.1501G>A | 67.88% | N/A | Benign |
| FANCA | p.T381= | c.1143G>T | 22.18% | N/A | Benign |
| FANCA | N/A | c.894-8A>G | 24.39% | N/A | Benign |
| FANCA | p.S208L | c.623C>T | 24.07% | N/A | Uncertain Significance |
| FANCC | p.G307V | c.920G>T | 20.92% | N/A | Uncertain Significance |
| FANCC | p.A158V | c.473C>T | 18.75% | N/A | Likely Benign |
| FANCC | p.S156= | c.468A>G | 18.39% | N/A | Likely Benign |
| FANCF | p.L111= | c.331C>T | 3.45% | N/A | Likely Benign |
| FANCI | p.K849= | c.2547G>A | 100.00% | N/A | Benign |
| FANCL | p.A299T | c.895G>A | 19.97% | N/A | Likely Benign |
| FANCL | N/A | c.791-10delT | 22.98% | N/A | Uncertain Significance |
| FANCM | p.L42= | c.126G>A | 2.39% | N/A | Likely Benign |
| FANCM | N/A | c.1788+6T>C | 22.34% | N/A | Uncertain Significance |
| FANCM | p.V878L | c.2632G>T | 44.96% | N/A | Benign |
| FANCM | p.Q1333Tfs*11 | c.3996_3997insA | 16.52% | N/A | Likely Pathogenic |
| FANCM | p.S1949T | c.5845T>A | 22.68% | 21.00% | Uncertain Significance |
| FANCM | p.M2010V | c.6028A>G | 21.53% | 21.20% | Uncertain Significance |
| MRE11A | N/A | c.1867+6T>C | 19.94% | N/A | Uncertain Significance |
| MRE11A | N/A | c.315-5_315-4delTT | 38.89% | N/A | Uncertain Significance |
| NBN | N/A | c.1398-10delT | 20.05% | N/A | Uncertain Significance |
| NBN | p.L34= | c.102G>A | 41.94% | N/A | Benign |
| NBN | N/A | c.38-10_38-9insA | 14.76% | N/A | Uncertain Significance |
| PALB2 | p.G808* | c.2422G>T | 17.58% | 20.80% | Pathogenic |
| PPP2R2A | p.C249Y | c.746G>A | 18.13% | N/A | Uncertain Significance |
| RAD50 | p.K722Rfs*14 | c.2165delA | 19.49% | N/A | Pathogenic |
| RAD51B | p.R348G | c.1042A>G | 23.42% | N/A | Likely Benign |
| RAD51C | p.T287A | c.859A>G | 19.52% | N/A | Benign |
| RAD51D | p.V66= | c.198G>T | 2014.00% | N/A | Likely Benign |
| RAD52 | p.R253C | c.757C>T | 22.43% | N/A | Uncertain Significance |
| RAD52 | N/A | c.348+7_348+8insA | 29.60% | N/A | Uncertain Significance |
| RAD54L | p.R587W | c.1759C>T | 21.40% | N/A | Likely Benign |
| RPA1 | p.A128V | c.383C>T | 18.76% | N/A | Uncertain Significance |
| RPA1 | p.S352= | c.1056C>T | 43.54% | N/A | Benign |
| RPA1 | p.E363Kfs*60 | c.1087delG | 21.20% | N/A | Pathogenic |
| RPA1 | p.S535= | c.1605T>C | 40.91% | N/A | Benign |
| 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 | ||||
