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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 240002529 | 11414893 | 240002529 | PDGFRA | 59 | 1 | 1 | 1 | null | g:unknown/null | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_copy_no | n:not_applicable_null | null | 0 | null | null | 2016-07-19 | 3)receiveddate | 2016-07-17 | 2016-07-19 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 240002484 | 10266751 | 240002484 | PDGFRA | 59 | 1 | 1 | 1 | null | g:unknown/null | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 1 | c.1799T>A | c.1799T>A | 2018-04-06 | 1)authoriseddate | 2018-04-13 | 2018-04-06 | p.Val561Asp | 1 | p.Val561Asp | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 240002452 | 10394583 | 240002452 | PDGFRA | 59 | 1 | 1 | 1 | null | g:unknown/null | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 0 | null | null | 2016-09-05 | 2)requesteddate | 2016-09-08 | 2016-09-05 | null | 0 | null | Sequencing, Dideoxy/Sanger | Cambridge (molecular lab) |
| 240003631 | 10247195 | 240000776 | FLT3 | 1609 | 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 | 2016-01-14 | 3)receiveddate | 2016-02-11 | 2016-01-14 | p.(Val560del) | 1 | p.(Val560del) | Sequencing, Dideoxy/Sanger | Bristol (molecular lab) |
| 240002434 | 11942562 | 240002434 | PDGFRA | 59 | 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 | 0 | null | null | 2018-01-31 | 3)receiveddate | 2018-03-14 | 2018-01-31 | p.Thr41Ala | 1 | p.Thr41Ala | Sequencing, Dideoxy/Sanger | Bristol (molecular lab) |
| 240002413 | 11784573 | 240002413 | TP53 | 79 | 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 | 2019-03-24 | 3)receiveddate | 2019-04-05 | 2019-03-24 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 240002405 | 10207200 | 240002405 | PDGFRA | 59 | 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 | 0 | null | null | 2016-07-02 | 3)receiveddate | 2016-07-02 | 2016-07-02 | null | 0 | null | Sequencing, Dideoxy/Sanger | Bristol (molecular lab) |
| 240002392 | 10041319 | 240002392 | PDGFRA | 59 | 1 | 1 | 1 | null | g:unknown/null | 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.2526_2537delCATCATGCATGA | c.2526_2537delCATCATGCATGA | 2018-12-24 | 1)authoriseddate | 2018-12-24 | 2018-12-24 | p.Val600Glu | 1 | p.Val600Glu | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 240002338 | 10174717 | 240002338 | PMS2 | 3394 | 1 | 1 | 1 | null | g:unknown/null | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 0 | null | null | 2017-03-12 | 3)receiveddate | 2017-03-16 | null | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 240002292 | 10226912 | 240002292 | SDHB | 68 | 1 | 1 | 1 | null | g:unknown/null | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2019-07-08 | 3)receiveddate | 2019-07-16 | 2019-07-08 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 250002436 | 11565808 | 250002436 | PDGFRA | 59 | 1 | 1 | 1 | null | g:unknown/null | 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 | 2019-06-12 | 1)authoriseddate | 2019-07-08 | null | null | 0 | null | Sequencing, Dideoxy/Sanger | null |
| 240002291 | 11433124 | 240002291 | PDGFRA | 59 | 1 | 1 | 1 | null | g:unknown/null | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 0 | null | null | 2018-12-26 | 1)authoriseddate | 2018-12-23 | 2018-12-26 | null | 0 | null | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 240002280 | 10380423 | 240002280 | PDGFRA | 59 | 1 | 1 | 1 | null | g:unknown/null | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 1 | c.1682_1687dup | c.1682_1687dup | 2017-07-23 | 3)receiveddate | 2017-07-25 | 2017-07-23 | p.(Arg1891Gly) | 1 | p.(Arg1891Gly) | Sequencing, Dideoxy/Sanger | Leeds (molecular lab) |
| 240002267 | 11055863 | 240002267 | PDGFRA | 59 | 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 | 2018-02-25 | 1)authoriseddate | 2018-03-02 | 2018-02-25 | null | 0 | null | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 240002240 | 11761103 | 240002240 | KIT | 44 | 1 | 1 | 1 | null | g:unknown/null | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 1 | c.1799T>A | c.1799T>A | 2019-12-19 | 3)receiveddate | 2020-01-02 | 2019-12-19 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 240002224 | 10884753 | 240002224 | JAZF1 | 5101 | 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 | 2016-05-18 | 1)authoriseddate | 2016-05-14 | 2016-05-18 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 240002175 | 11815341 | 240002175 | PDGFRA | 59 | 1 | 1 | 1 | null | g:unknown/null | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 0 | null | null | 2018-02-07 | 3)receiveddate | 2018-02-09 | 2018-02-07 | null | 0 | null | Sequencing, Dideoxy/Sanger | Cambridge (molecular lab) |
| 240002165 | 11959931 | 240002165 | CCND1 | 13 | 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 | 0 | null | null | 2017-11-14 | 1)authoriseddate | 2017-11-16 | 2017-12-14 | null | 0 | null | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 240002107 | 11797049 | 240002107 | PDGFRA | 59 | 1 | 1 | 1 | null | g:unknown/null | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 0 | null | null | 2017-10-28 | 1)authoriseddate | 2017-05-08 | 2017-10-28 | null | 0 | null | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 240002079 | 10144425 | 240002079 | ROS1 | 67 | 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 | 0 | null | null | 2017-10-04 | 3)receiveddate | 2017-10-04 | 2017-10-04 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 240002072 | 11379213 | 240002072 | PDGFRA | 59 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2018-02-07 | 3)receiveddate | 2018-02-01 | 2018-02-07 | null | 0 | null | Sequencing, Dideoxy/Sanger | null |
| 250000308 | 11056835 | 250000308 | BRAF | 6 | 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 | 4)collecteddate | 2019-08-07 | 2019-07-11 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 240002013 | 10594194 | 240002013 | PDGFRA | 59 | 1 | 1 | 1 | null | g:unknown/null | 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.1504_1509dupGCCTAT | c.1504_1509dupGCCTAT | 2019-02-09 | 3)receiveddate | 2019-02-09 | 2019-02-09 | p.(Arg139Gln),p.(Arg166Gln),p.(Trp106Leu),p.(Trp79Leu) | 4 | multiple | Sequencing, Dideoxy/Sanger | Cambridge (molecular lab) |
| 250009187 | 10291977 | 250001134 | MDM2 | 2663 | 1 | 1 | 1 | null | g:unknown/null | 0 | null | null | null | null | null | null | 0 | null | null | 2019-01-18 | null | 2019-02-02 | null | null | 0 | null | Sequencing, Dideoxy/Sanger | null |
| 240001979 | 10479563 | 240001979 | MYD88 | 2858 | 1 | 2 | 1 | b:normal,b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2018-03-23 | 3)receiveddate | 2018-03-21 | 2018-03-23 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 240001973 | 11406250 | 240001973 | PDGFRA | 59 | 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 | 0 | null | null | 2019-06-11 | 3)receiveddate | 2019-06-16 | 2019-06-11 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 240001958 | 11741899 | 240001958 | PDGFRA | 59 | 1 | 1 | 1 | null | g:unknown/null | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 0 | null | null | 2019-08-15 | 1)authoriseddate | 2019-08-17 | 2019-08-15 | null | 0 | null | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 240001918 | 11754779 | 240001918 | PDGFRA | 59 | 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 | 0 | null | null | 2018-08-19 | 3)receiveddate | 2018-08-17 | 2018-08-19 | null | 0 | null | Sequencing, Dideoxy/Sanger | Sheffield (molecular lab) |
| 240001888 | 10561895 | 240001888 | PDGFRA | 59 | 1 | 1 | 1 | null | g:unknown/null | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 0 | null | null | 2018-04-22 | 1)authoriseddate | 2018-04-19 | 2018-04-22 | null | 0 | null | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 240001863 | 10959508 | 240001863 | SDHB | 68 | 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 | 1 | c.1666_1695dup | c.1666_1695dup | 2019-11-22 | 1)authoriseddate | 2019-12-03 | 2019-11-22 | null | 0 | null | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 240001834 | 10225498 | 240001834 | BRAF | 6 | 1 | 1 | 1 | null | g:unknown/null | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 0 | null | null | 2017-07-11 | 1)authoriseddate | 2017-07-08 | null | null | 0 | null | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 250002027 | 11930191 | 250002027 | EGFR | 24 | 1 | 1 | 1 | null | g:unknown/null | 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 | 2017-09-25 | 1)authoriseddate | 2018-04-25 | null | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 240001833 | 10170584 | 240001833 | BRAF | 6 | 1 | 1 | 1 | null | g:unknown/null | 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 | 2017-01-01 | 3)receiveddate | 2016-12-03 | null | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 240001775 | 10813709 | 240001775 | PDGFRA | 59 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2016-12-09 | 3)receiveddate | 2016-11-23 | null | null | 0 | null | Sequencing, Dideoxy/Sanger | null |
| 240001737 | 11282385 | 240001737 | NTRK1 | 58 | 1 | 1 | 1 | null | g:unknown/null | 1 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | ab:abnormal_copy_no_gain | b:normal_fusion/trans | copy_no_gain | 0 | null | null | 2016-10-22 | 3)receiveddate | 2016-10-23 | 2016-10-29 | null | 0 | null | Sequencing, Dideoxy/Sanger | Bristol (molecular lab) |
| 240001722 | 11763176 | 240001722 | PDGFRA | 59 | 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 | 1 | c.1712_1741dup | c.1712_1741dup | 2016-06-06 | 3)receiveddate | 2016-06-09 | null | null | 0 | null | Sequencing, Dideoxy/Sanger | Bristol (molecular lab) |
| 240001671 | 11094397 | 240001671 | TERT | 77 | 1 | 1 | 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 | 0 | null | null | 2016-12-27 | 1)authoriseddate | 2016-11-09 | 2016-12-27 | null | 0 | null | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 240001663 | 11545064 | 240001663 | PDGFRA | 59 | 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 | 2018-12-09 | 1)authoriseddate | 2018-12-16 | 2018-12-09 | null | 0 | null | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 240001649 | 11526632 | 240001649 | PDGFRA | 59 | 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 | 2019-10-02 | 1)authoriseddate | 2019-10-31 | 2019-10-02 | null | 0 | null | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 240001620 | 11596147 | 240001620 | PDGFRA | 59 | 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 | 2017-04-17 | 3)receiveddate | 2017-05-22 | 2017-04-17 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 240001610 | 10644270 | 240001610 | PDGFRA | 59 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2019-07-29 | 3)receiveddate | 2019-08-19 | 2019-07-29 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 240001587 | 10502959 | 240001587 | PDGFRA | 59 | 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 | 2018-07-22 | 1)authoriseddate | 2018-07-26 | 2018-07-22 | null | 0 | null | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 240001533 | 10163571 | 240001533 | PDGFRA | 59 | 1 | 1 | 1 | null | g:unknown/null | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 0 | null | null | 2017-12-11 | 1)authoriseddate | 2017-12-12 | 2018-05-16 | null | 0 | null | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 250008609 | 10404829 | 250002234 | KIT | 44 | 1 | 1 | 1 | null | g:unknown/null | 0 | null | null | null | null | null | null | 0 | null | null | 2019-02-08 | 1)authoriseddate | null | 2019-02-08 | null | 0 | null | Sequencing, Dideoxy/Sanger | Leeds (molecular lab) |
| 250000121 | 10053814 | 250000121 | PMS2 | 3394 | 1 | 2 | 1 | a:abnormal,a:abnormal,a:abnormal | a:abnormal | 1 | n:not_applicable_null | n:not_applicable_null | aa:abnormal_under_exp | n:not_applicable_null | n:not_applicable_null | under_exp | 0 | null | null | 2016-04-05 | 1)authoriseddate | 2016-04-05 | 2016-04-05 | null | 0 | null | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 240001521 | 11749102 | 240001521 | PDGFRA | 59 | 1 | 1 | 1 | null | g:unknown/null | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 0 | null | null | 2017-04-05 | 3)receiveddate | null | 2017-04-05 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 240001519 | 11243387 | 240001519 | SDHB | 68 | 1 | 1 | 1 | null | g:unknown/null | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 0 | null | null | 2018-03-04 | 1)authoriseddate | 2018-03-13 | 2018-03-04 | null | 0 | null | Sequencing, Dideoxy/Sanger | Leeds (molecular lab) |
| 250009312 | 10673701 | 250000284 | PDGFRA | 59 | 1 | 1 | 1 | null | g:unknown/null | 0 | null | null | null | null | null | null | 0 | null | null | 2019-10-09 | 1)authoriseddate | null | null | null | 0 | null | Sequencing, Dideoxy/Sanger | Manchester (molecular lab) |
| 240001459 | 11177926 | 240001459 | PDGFRA | 59 | 1 | 2 | 1 | b:normal,b:normal | b:normal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 0 | null | null | 2016-08-22 | null | 2016-08-24 | 2016-08-22 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 240001364 | 10901791 | 240001364 | PDGFRA | 59 | 1 | 1 | 1 | null | g:unknown/null | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 1 | c.1666_1695dup | c.1666_1695dup | 2019-05-24 | 1)authoriseddate | 2019-06-18 | 2019-05-24 | p.(Val600Glu) | 1 | p.(Val600Glu) | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |