V2 av_gene
255,731 rows · 29 columns
| GENEID | TUMOURID | PATIENTID | GENE_DESC | GENE | COUNT_TESTS | COUNT_RESULTS | COUNT_DATE | ALL_TESTSTATUSES | OVERALL_TS | NO_OF_AB_GATS | DNASEQ_GAT | METHYL_GAT | EXP_GAT | COPYNO_GAT | FUS_TRANS_GAT | ABNORMAL_GAT | NO_OF_SEQ_VARS | ALL_SEQ_VARS | SEQ_VAR | DATE_OVERALL_TS | BEST_DATE_SOURCE_OVERALL_TS | MIN_DATE | MAX_DATE | ALL_PRO_IMPS | NO_OF_PRO_IMPS | PRO_IMP | METHODS | LAB_NAME |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130144812 | 10258454 | 130007747 | NRAS | 56 | 1 | 1 | 1 | g:unknown/null | g:unknown/null | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-05-30 | 1)authoriseddate | 2019-06-17 | 2019-05-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130144814 | 11408091 | 130007755 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-04-18 | 1)authoriseddate | 2018-05-15 | 2018-04-18 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130144817 | 11019618 | 130007761 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-04-23 | 1)authoriseddate | 2019-05-22 | 2019-04-23 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130144819 | 11851000 | 130007772 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-10-21 | 1)authoriseddate | 2019-11-20 | 2019-10-21 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130144821 | 11223599 | 130007775 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-04-10 | 3)receiveddate | 2019-05-05 | 2019-04-10 | null | 0 | null | Sequencing, Next Generation (NGS) | Exeter (molecular lab) |
| 130144823 | 11765449 | 130007777 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-01-11 | 1)authoriseddate | 2018-02-06 | 2018-01-11 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130144826 | 11190672 | 130007782 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-02-09 | 1)authoriseddate | 2019-02-27 | 2019-02-09 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130144827 | 10000699 | 130007791 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-08-23 | 1)authoriseddate | 2019-09-04 | 2019-08-23 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130144828 | 11242892 | 130007792 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-09-03 | 1)authoriseddate | 2019-09-29 | 2019-09-03 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130144832 | 10696497 | 130007816 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-07-09 | 1)authoriseddate | 2018-08-07 | 2018-07-09 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130144833 | 11211496 | 130007821 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-01-28 | 1)authoriseddate | 2019-02-22 | 2019-01-28 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130144834 | 11245726 | 130007822 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-07-06 | 1)authoriseddate | 2017-08-05 | 2017-07-07 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130144835 | 11991577 | 130007823 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-12-08 | 1)authoriseddate | 2018-09-17 | 2018-12-11 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130144836 | 10876228 | 130007828 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-12-23 | 1)authoriseddate | 2018-12-23 | 2018-12-23 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130144839 | 10139236 | 130007840 | NRAS | 56 | 1 | 1 | 1 | g:unknown/null | g:unknown/null | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-05-08 | 1)authoriseddate | 2019-06-06 | 2019-05-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130144840 | 11155374 | 130007841 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-12-25 | 1)authoriseddate | 2016-12-02 | 2016-12-25 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130144842 | 11866682 | 130007846 | NRAS | 56 | 1 | 2 | 1 | b:normal,b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-02-27 | 1)authoriseddate | 2019-02-05 | 2019-02-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130144844 | 11339922 | 130007855 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-11-10 | 1)authoriseddate | 2019-12-05 | 2019-11-10 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130144845 | 11262349 | 130007857 | NRAS | 56 | 1 | 1 | 1 | g:unknown/null | g:unknown/null | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-03-10 | 1)authoriseddate | 2019-02-28 | 2019-03-11 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130144848 | 11498109 | 130007867 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-05-05 | 1)authoriseddate | 2018-05-18 | 2018-05-05 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130144850 | 11464062 | 130007870 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-07-24 | 1)authoriseddate | 2019-08-20 | 2019-07-24 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130144857 | 11774685 | 130007888 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-11-13 | 1)authoriseddate | 2019-11-30 | 2019-11-13 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130144860 | 10500725 | 130007895 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-01-19 | 1)authoriseddate | 2017-02-16 | 2017-01-19 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130144861 | 11426459 | 130007902 | NRAS | 56 | 1 | 1 | 1 | e:failed | e:failed | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-08-02 | 1)authoriseddate | 2019-07-19 | 2019-08-02 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130144866 | 11300867 | 130007914 | NRAS | 56 | 1 | 2 | 1 | b:normal,b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-11-25 | 2)requesteddate | 2019-12-24 | 2019-11-25 | null | 0 | null | Sequencing, Next Generation (NGS) | Exeter (molecular lab) |
| 130144867 | 10657355 | 130007915 | NRAS | 56 | 1 | 2 | 1 | b:normal,e:failed | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-04-23 | 1)authoriseddate | 2017-02-24 | 2017-04-23 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130144873 | 11808321 | 130007936 | NRAS | 56 | 1 | 1 | 1 | g:unknown/null | g:unknown/null | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-10-14 | 1)authoriseddate | 2018-11-01 | 2018-10-14 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130144883 | 10220893 | 130007969 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-07-13 | 1)authoriseddate | 2018-05-08 | 2018-07-13 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130147805 | 10065270 | 130017601 | PIK3CA | 60 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-09-18 | 1)authoriseddate | 2016-09-27 | 2016-09-18 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130147807 | 11005252 | 130017613 | PIK3CA | 60 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.1634A>C | c.1634A>C | 2018-09-24 | 1)authoriseddate | 2018-10-16 | 2018-09-24 | p.(His1047Leu) | 1 | p.(His1047Leu) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147809 | 11532018 | 130017620 | PIK3CA | 60 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-09-16 | 1)authoriseddate | 2019-10-10 | 2019-09-16 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147811 | 10419248 | 130017638 | PIK3CA | 60 | 1 | 2 | 1 | b:normal,b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-09-03 | 1)authoriseddate | 2019-08-20 | 2019-09-10 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147812 | 10245562 | 130017640 | PIK3CA | 60 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-08-14 | 1)authoriseddate | 2019-08-10 | 2019-08-14 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147813 | 11380340 | 130017648 | PIK3CA | 60 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-11-28 | 1)authoriseddate | 2019-12-18 | 2019-11-28 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147814 | 10126301 | 130017650 | PIK3CA | 60 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-10-14 | 1)authoriseddate | 2016-10-29 | 2016-10-14 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147818 | 11276042 | 130017660 | PIK3CA | 60 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.1624G>A | c.1624G>A | 2016-12-20 | 1)authoriseddate | 2016-12-29 | 2016-12-20 | p.Glu542Lys | 1 | p.Glu542Lys | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147820 | 11354385 | 130017668 | PIK3CA | 60 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.1636C>A | c.1636C>A | 2019-10-12 | 1)authoriseddate | 2019-09-07 | 2019-10-12 | p.(Glu545Gly) | 1 | p.(Glu545Gly) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147821 | 10498227 | 130017671 | PIK3CA | 60 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-03-27 | 1)authoriseddate | 2019-04-04 | 2019-03-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147822 | 10594067 | 130017674 | PIK3CA | 60 | 1 | 1 | 1 | e:failed | e:failed | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-01-18 | 1)authoriseddate | 2017-08-06 | 2018-01-18 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147823 | 11701277 | 130017678 | PIK3CA | 60 | 1 | 1 | 1 | e:failed | e:failed | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-06-17 | 1)authoriseddate | 2019-07-13 | 2019-06-17 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147830 | 10987016 | 130017711 | PIK3CA | 60 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-03-29 | 2)requesteddate | 2017-04-25 | 2017-09-23 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147834 | 10248795 | 130017737 | PIK3CA | 60 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-11-16 | 1)authoriseddate | 2019-12-02 | 2019-11-16 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147835 | 10706344 | 130017746 | PIK3CA | 60 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-08-02 | 1)authoriseddate | 2018-08-28 | 2018-08-02 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147836 | 10500792 | 130017753 | PIK3CA | 60 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-11-20 | 1)authoriseddate | 2017-06-16 | 2017-11-20 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147837 | 10141563 | 130017762 | PIK3CA | 60 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-05-10 | 1)authoriseddate | 2016-06-06 | 2016-05-10 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147838 | 10437947 | 130017764 | PIK3CA | 60 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.817A>G | c.817A>G | 2017-08-29 | 1)authoriseddate | 2017-03-25 | 2017-08-29 | p.(Gln546Lys) | 1 | p.(Gln546Lys) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147842 | 10902187 | 130017787 | PIK3CA | 60 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | null | 1)authoriseddate | 2017-10-04 | null | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147843 | 10324580 | 130017789 | PIK3CA | 60 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.3140A>G | c.3140A>G | 2019-09-23 | 1)authoriseddate | 2019-02-26 | 2019-09-23 | p.(His1047Arg) | 1 | p.(His1047Arg) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130147844 | 11216298 | 130017790 | PIK3CA | 60 | 1 | 3 | 1 | a:abnormal,b:normal,b:normal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.1633G>A | c.1633G>A | 2017-11-04 | 1)authoriseddate | 2017-01-26 | 2018-06-27 | p.(Glu545Lys) | 1 | p.(Glu545Lys) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147848 | 11304295 | 130017810 | PIK3CA | 60 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.1633G>A | c.1633G>A | 2019-10-14 | 1)authoriseddate | 2018-05-23 | 2019-10-14 | p.(Glu545Lys) | 1 | p.(Glu545Lys) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |