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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130154393 | 10968936 | 130017815 | 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 | 2019-12-17 | 1)authoriseddate | 2017-08-19 | 2019-12-17 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130159001 | 10378359 | 130017398 | 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 | 2017-05-23 | 1)authoriseddate | 2017-05-17 | 2017-05-23 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130159003 | 11232649 | 130017426 | 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.3145G>C | c.3145G>C | 2019-05-23 | 1)authoriseddate | 2019-05-28 | 2019-05-23 | p.(His1047Arg) | 1 | p.(His1047Arg) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130159005 | 11891349 | 130017430 | 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 | 2018-12-24 | 1)authoriseddate | 2019-01-18 | 2018-12-24 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130159008 | 10819790 | 130017441 | 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 | 2 | c.1624G>A,c.1624G>A | multiple | 2019-06-19 | 1)authoriseddate | 2019-06-25 | 2019-06-19 | p.(Arg38His),p.(Pro592Ala) | 2 | multiple | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130159013 | 11720079 | 130017472 | 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 | 2017-09-01 | 1)authoriseddate | 2017-09-09 | 2017-09-01 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130159014 | 10249577 | 130017494 | 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 | 2018-12-20 | 1)authoriseddate | 2018-10-14 | 2018-12-20 | p.(His1047Leu) | 1 | p.(His1047Leu) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130159015 | 11186108 | 130017498 | 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 | 2019-12-14 | 1)authoriseddate | 2019-04-17 | 2019-12-14 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130159018 | 10669229 | 130017548 | 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 | 2019-11-30 | 1)authoriseddate | 2019-06-24 | 2019-11-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130159021 | 10385967 | 130017560 | 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 | 2017-09-17 | 1)authoriseddate | 2017-10-13 | 2017-09-17 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130159023 | 11863409 | 130017593 | 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 | 2018-08-09 | 1)authoriseddate | 2018-08-02 | 2018-08-09 | null | 0 | null | Other | Manchester (molecular lab) |
| 130159024 | 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 | 2016-10-02 | 1)authoriseddate | 2016-10-27 | 2016-10-02 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130159025 | 10852945 | 130017604 | 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 | 2017-10-02 | 1)authoriseddate | 2017-10-23 | 2017-10-02 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130159026 | 11005252 | 130017613 | 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 | 2018-09-24 | 1)authoriseddate | 2018-07-26 | 2018-10-20 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130159028 | 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 | 2019-09-29 | 3)receiveddate | 2019-09-18 | 2019-09-29 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130159031 | 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 | 2018-10-14 | 2019-08-14 | null | 0 | null | Other | Manchester (molecular lab) |
| 130159032 | 11380340 | 130017648 | 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 | 2019-11-28 | 1)authoriseddate | 2019-12-24 | 2019-11-28 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130159033 | 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 | 2016-10-15 | 1)authoriseddate | 2016-11-11 | 2016-10-15 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130159037 | 11276042 | 130017660 | 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 | 2017-01-28 | 1)authoriseddate | 2017-01-17 | 2017-01-28 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130159040 | 10498227 | 130017671 | 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.263G>A | c.263G>A | 2019-04-04 | 1)authoriseddate | 2017-08-04 | 2019-04-04 | p.(Arg38His) | 1 | p.(Arg38His) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130159041 | 10594067 | 130017674 | 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 | 2018-01-18 | 1)authoriseddate | 2017-04-30 | 2018-01-18 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130159049 | 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 | 2019-06-19 | 1)authoriseddate | 2017-01-09 | 2019-06-19 | null | 0 | null | Other | Royal Marsden (molecular lab) |
| 130159052 | 10248795 | 130017737 | 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 | 2019-12-02 | 1)authoriseddate | 2019-11-16 | 2020-05-15 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130159054 | 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 | 2018-08-11 | 1)authoriseddate | 2018-08-21 | 2018-08-11 | null | 0 | null | Other | Manchester (molecular lab) |
| 130159055 | 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 | 2016-06-06 | 1)authoriseddate | 2016-06-27 | 2016-06-06 | null | 0 | null | Other | Royal Marsden (molecular lab) |
| 130159056 | 10437947 | 130017764 | 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 | 2018-09-15 | 1)authoriseddate | 2018-09-25 | 2018-09-16 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130159060 | 10902187 | 130017787 | PIK3CA | 60 | 1 | 3 | 1 | e:failed,a:abnormal,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 | null | 1)authoriseddate | null | null | p.(Glu542Lys) | 1 | p.(Glu542Lys) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130159061 | 10324580 | 130017789 | 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 | 2019-10-08 | 1)authoriseddate | 2019-07-22 | 2019-10-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130159062 | 11216298 | 130017790 | 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 | 2017-11-04 | 1)authoriseddate | 2017-10-18 | 2017-11-04 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130159067 | 10707863 | 130017812 | 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 | 2019-08-16 | 1)authoriseddate | 2019-06-27 | 2019-08-16 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130159069 | 10308811 | 130017818 | 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 | 2019-08-10 | 1)authoriseddate | 2019-04-13 | 2019-08-17 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130162292 | 10378359 | 130017398 | 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 | 2017-05-29 | 1)authoriseddate | 2017-05-27 | 2017-05-29 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130162294 | 11232649 | 130017426 | 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 | 2019-05-23 | 1)authoriseddate | 2019-03-26 | 2019-05-23 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130162296 | 11891349 | 130017430 | PIK3CA | 60 | 1 | 2 | 1 | e:failed,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 | 2019-01-02 | 1)authoriseddate | 2019-01-09 | 2019-01-02 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130162299 | 10819790 | 130017441 | 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 | 2019-07-11 | 1)authoriseddate | 2019-07-10 | 2019-07-11 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130162304 | 11720079 | 130017472 | 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.2176G>A | c.2176G>A | 2017-12-20 | 1)authoriseddate | 2017-08-01 | 2017-12-20 | p.(Glu542Ala),p.(His1047Arg) | 2 | multiple | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130162305 | 10249577 | 130017494 | 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 | 2018-12-20 | 1)authoriseddate | 2018-12-13 | 2019-01-14 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130162306 | 11186108 | 130017498 | PIK3CA | 60 | 1 | 2 | 1 | a:abnormal,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 | 2019-12-14 | 1)authoriseddate | 2019-12-26 | 2019-12-14 | p.(His1047Arg) | 1 | p.(His1047Arg) | Roche COBAS | Royal Marsden (molecular lab) |
| 130162309 | 10669229 | 130017548 | 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 | 2019-12-20 | 1)authoriseddate | 2019-10-25 | 2019-12-20 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130162312 | 10385967 | 130017560 | 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 | 2017-09-17 | 1)authoriseddate | 2017-10-09 | 2017-09-17 | p.(His1047Arg) | 1 | p.(His1047Arg) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130162314 | 11863409 | 130017593 | 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 | 2018-08-17 | 1)authoriseddate | 2018-06-22 | 2018-08-17 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130162315 | 10065270 | 130017601 | 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 | 2016-10-31 | 1)authoriseddate | 2016-08-31 | 2016-10-31 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130162316 | 10852945 | 130017604 | 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 | 2017-10-30 | 1)authoriseddate | 2017-10-11 | 2017-10-30 | null | 0 | null | Other | Manchester (molecular lab) |
| 130162317 | 11005252 | 130017613 | 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 | 2018-09-24 | 1)authoriseddate | 2018-10-03 | 2018-10-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130162319 | 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 | 2019-10-25 | 1)authoriseddate | 2019-10-23 | 2019-10-25 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130162322 | 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 | 2019-02-18 | 2019-08-14 | null | 0 | null | Roche COBAS | Manchester (molecular lab) |
| 130162323 | 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 | 2019-12-19 | 1)authoriseddate | 2020-01-12 | 2020-02-24 | null | 0 | null | Roche COBAS | Manchester (molecular lab) |
| 130162324 | 10126301 | 130017650 | 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 | 2016-10-15 | 1)authoriseddate | 2016-11-12 | 2016-10-15 | p.(His1047Arg) | 1 | p.(His1047Arg) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130162328 | 11276042 | 130017660 | 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 | 2017-02-04 | 1)authoriseddate | 2017-01-15 | 2017-02-04 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130162331 | 10498227 | 130017671 | 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 | 2019-04-11 | 1)authoriseddate | 2018-02-18 | 2019-04-11 | p.(Glu542Lys) | 1 | p.(Glu542Lys) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |