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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 200001304 | 10431163 | 200001304 | BRAF | 6 | 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 | 2017-11-01 | 1)authoriseddate | 2017-10-26 | 2017-11-01 | null | 0 | null | Unknown | Manchester (molecular lab) |
| 200001305 | 10032665 | 200001305 | BRAF | 6 | 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 | 2017-12-21 | 1)authoriseddate | 2017-12-27 | 2017-12-21 | null | 0 | null | Pyrosequencing,Roche COBAS | Manchester (molecular lab) |
| 200001306 | 10202817 | 200001306 | 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 | 2019-10-11 | 1)authoriseddate | 2019-08-01 | 2019-10-11 | null | 0 | null | Pyrosequencing,Roche COBAS | Manchester (molecular lab) |
| 200001307 | 11429814 | 200001307 | BRAF | 6 | 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.1799T>A | c.1799T>A | 2016-07-07 | 1)authoriseddate | 2016-07-08 | 2016-07-07 | p.V600E | 1 | p.V600E | Pyrosequencing | Manchester (molecular lab) |
| 200001308 | 10804810 | 200001308 | BRAF | 6 | 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 | 2016-01-31 | 3)receiveddate | 2016-01-31 | 2016-01-31 | null | 0 | null | Pyrosequencing | Bristol (molecular lab) |
| 200001309 | 11580295 | 200001309 | 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 | 2018-08-20 | 1)authoriseddate | 2018-07-31 | 2018-08-20 | null | 0 | null | Pyrosequencing | Leeds (molecular lab) |
| 200001310 | 10425999 | 200001310 | BRAF | 6 | 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 | 2017-09-10 | 1)authoriseddate | 2017-09-09 | 2017-09-10 | null | 0 | null | Pyrosequencing | Nottingham (molecular lab) |
| 200001311 | 11010830 | 200001311 | 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 | 2017-04-04 | 3)receiveddate | 2017-04-03 | 2017-04-04 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200001312 | 11074603 | 200001312 | 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 | 2017-01-05 | 3)receiveddate | 2017-01-14 | 2017-01-05 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 200001313 | 10747782 | 200001313 | BRAF | 6 | 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.1799T>A | c.1799T>A | 2017-10-04 | 1)authoriseddate | 2017-10-02 | 2017-10-04 | p.(Val600Glu) | 1 | p.(Val600Glu) | Sequencing, Dideoxy/Sanger | Exeter (molecular lab) |
| 200001314 | 11729050 | 200001314 | BRAF | 6 | 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.1799T>A | c.1799T>A | 2018-05-21 | 1)authoriseddate | 2018-04-24 | 2018-05-21 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing,Roche COBAS | Manchester (molecular lab) |
| 200001315 | 10469188 | 200001315 | BRAF | 6 | 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.1799T>A | c.1799T>A | 2019-03-11 | 1)authoriseddate | 2019-03-11 | 2019-03-11 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing | Leeds (molecular lab) |
| 200001316 | 11966734 | 200001316 | BRAF | 6 | 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.1798_1799delinsAA | c.1798_1799delinsAA | 2016-04-26 | 1)authoriseddate | 2016-04-22 | 2016-04-26 | p.(Val600Lys) | 1 | p.(Val600Lys) | Pyrosequencing,Roche COBAS | Birmingham (molecular lab) |
| 200001317 | 10721853 | 200001317 | 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 | 2019-09-10 | 3)receiveddate | 2019-09-08 | 2021-06-23 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200001318 | 10089914 | 200001318 | 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 | 2019-06-14 | 3)receiveddate | 2019-06-26 | 2019-06-14 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200001319 | 11813673 | 200001319 | BRAF | 6 | 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 | 2019-09-29 | 1)authoriseddate | 2019-10-24 | 2019-09-29 | null | 0 | null | Pyrosequencing | Sheffield (molecular lab) |
| 200001320 | 11844968 | 200001320 | BRAF | 6 | 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.1799T>A | c.1799T>A | 2016-12-22 | 1)authoriseddate | 2017-01-07 | 2016-12-22 | p.Val600Glu | 1 | p.Val600Glu | Roche COBAS | Birmingham (molecular lab) |
| 200001321 | 11803675 | 200001321 | BRAF | 6 | 1 | 3 | 1 | a:abnormal,b:normal,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.1799T>A | c.1799T>A | 2018-11-08 | 3)receiveddate | 2018-11-04 | 2018-11-08 | p.(Val600Glu) | 1 | p.(Val600Glu) | Roche COBAS | Birmingham (molecular lab) |
| 200001322 | 10405691 | 200001322 | BRAF | 6 | 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 | 0 | null | null | 2018-05-11 | 1)authoriseddate | 2018-05-11 | 2018-05-11 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200001323 | 10250961 | 200001323 | BRAF | 6 | 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 | 2017-01-28 | 1)authoriseddate | 2017-02-27 | 2017-01-28 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200001324 | 10265793 | 200001324 | BRAF | 6 | 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.1799T>A | c.1799T>A | 2017-03-23 | 3)receiveddate | 2017-03-12 | 2017-03-23 | p.(Val600Glu) | 1 | p.(Val600Glu) | Roche COBAS | Birmingham (molecular lab) |
| 200001325 | 11541424 | 200001325 | 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 | 2017-09-04 | 1)authoriseddate | 2017-09-02 | 2017-09-07 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200001326 | 11722307 | 200001326 | 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 | 2019-02-16 | 3)receiveddate | 2019-02-17 | 2021-05-18 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200001327 | 10128537 | 200001327 | 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 | 2016-03-17 | 3)receiveddate | 2016-03-31 | 2016-03-17 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200001328 | 10386354 | 200001328 | BRAF | 6 | 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 | 2017-07-04 | 3)receiveddate | 2017-06-20 | 2017-07-04 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200001329 | 11753555 | 200001329 | BRAF | 6 | 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 | 2016-03-23 | 3)receiveddate | 2016-02-17 | 2016-03-23 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200001330 | 11761808 | 200001330 | BRAF | 6 | 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.1798_1799delinsAA | c.1798_1799delinsAA | 2018-11-07 | 1)authoriseddate | 2018-10-16 | 2018-11-07 | p.(Val600Lys) | 1 | p.(Val600Lys) | Pyrosequencing | Manchester (molecular lab) |
| 200001331 | 11713038 | 200001331 | 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 | 2018-06-17 | 3)receiveddate | 2018-06-15 | 2018-06-17 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200001333 | 10866237 | 200001333 | BRAF | 6 | 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 | 2017-02-06 | 3)receiveddate | 2017-01-31 | 2017-02-06 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200001334 | 10097825 | 200001334 | 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 | 2018-03-02 | 3)receiveddate | 2018-03-04 | 2018-03-02 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200001335 | 11526620 | 200001335 | 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 | 2019-03-09 | 1)authoriseddate | 2019-03-20 | 2019-03-09 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200001336 | 10220993 | 200001336 | 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 | 2017-01-22 | 1)authoriseddate | 2017-01-29 | 2017-01-22 | null | 0 | null | Pyrosequencing | Nottingham (molecular lab) |
| 200001337 | 10487333 | 200001337 | 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 | 2018-11-03 | 3)receiveddate | 2018-11-05 | 2018-11-03 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200001338 | 10880245 | 200001338 | 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 | 2019-05-26 | 3)receiveddate | 2019-06-17 | 2019-07-01 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200001339 | 11736768 | 200001339 | 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 | 2019-12-01 | 3)receiveddate | 2019-11-16 | 2019-12-01 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200001340 | 11954296 | 200001340 | BRAF | 6 | 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.1799T>A | c.1799T>A | 2019-04-11 | 1)authoriseddate | 2019-04-11 | 2019-04-11 | p.Val600Lys | 1 | p.Val600Lys | Pyrosequencing | Manchester (molecular lab) |
| 200001341 | 10978635 | 200001341 | 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 | 2016-12-09 | 1)authoriseddate | 2016-12-10 | 2016-12-09 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200001342 | 10426889 | 200001342 | 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 | 2017-05-31 | 1)authoriseddate | 2017-04-09 | 2017-05-31 | null | 0 | null | Pyrosequencing | Nottingham (molecular lab) |
| 200001343 | 10965252 | 200001343 | 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 | 2018-12-26 | 1)authoriseddate | 2018-12-23 | 2019-05-20 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200001344 | 11881338 | 200001344 | 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 | 2018-05-16 | 3)receiveddate | 2018-03-03 | 2018-05-22 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200001345 | 10561168 | 200001345 | BRAF | 6 | 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.1799T>A | c.1799T>A | 2019-11-10 | 3)receiveddate | 2019-11-21 | 2019-11-10 | p.(Val600Glu) | 1 | p.(Val600Glu) | Immunochemistry,Roche COBAS | Birmingham (molecular lab) |
| 200001346 | 11112418 | 200001346 | BRAF | 6 | 1 | 2 | 1 | a:abnormal,a:abnormal | a:abnormal | 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 | 2016-01-28 | 3)receiveddate | 2016-01-26 | 2016-07-24 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200001347 | 11679193 | 200001347 | BRAF | 6 | 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.1798_1799delGTinsAA | c.1798_1799delGTinsAA | 2016-02-14 | 3)receiveddate | 2016-02-17 | 2016-02-14 | p.(Val600Lys) | 1 | p.(Val600Lys) | Pyrosequencing | Nottingham (molecular lab) |
| 200001348 | 11730769 | 200001348 | BRAF | 6 | 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.1799T>A | c.1799T>A | 2016-11-25 | 3)receiveddate | 2016-10-23 | 2016-11-25 | p.(Val600Glu) | 1 | p.(Val600Glu) | Roche COBAS | Birmingham (molecular lab) |
| 200001349 | 11219186 | 200001349 | BRAF | 6 | 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.1799T>A | c.1799T>A | 2017-09-24 | 3)receiveddate | 2017-09-14 | 2017-09-24 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing | Bristol (molecular lab) |
| 200001350 | 10984035 | 200001350 | 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 | 2019-06-20 | 1)authoriseddate | 2019-06-17 | 2019-06-20 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200001351 | 10872675 | 200001351 | BRAF | 6 | 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.1799T>A | c.1799T>A | 2016-06-11 | 3)receiveddate | 2016-06-29 | 2016-06-11 | p.V600E | 1 | p.V600E | Roche COBAS | Birmingham (molecular lab) |
| 200001352 | 10479070 | 200001352 | BRAF | 6 | 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 | 2017-12-01 | 3)receiveddate | 2017-12-06 | 2017-12-01 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200001353 | 10081153 | 200001353 | BRAF | 6 | 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 | 2019-09-23 | 1)authoriseddate | 2019-09-30 | 2019-09-23 | null | 0 | null | Sequencing, Dideoxy/Sanger | Exeter (molecular lab) |
| 200001354 | 11072033 | 200001354 | BRAF | 6 | 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 | 2018-10-24 | 1)authoriseddate | 2018-10-25 | 2018-10-24 | p.(Val600Arg) | 1 | p.(Val600Arg) | Pyrosequencing | Nottingham (molecular lab) |