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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 200002102 | 10880959 | 200002102 | 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 | 2017-07-11 | 1)authoriseddate | 2017-07-24 | 2017-07-11 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200002101 | 11959965 | 200002101 | 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 | 2018-06-27 | 1)authoriseddate | 2018-06-21 | 2018-06-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 200002100 | 11278569 | 200002100 | 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.1799_1800delinsAA | c.1799_1800delinsAA | 2019-01-22 | 1)authoriseddate | 2019-02-07 | 2019-01-22 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing | Unknown |
| 200008477 | 11278569 | 200002100 | 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 | 2019-01-22 | 3)receiveddate | 2019-01-31 | 2019-01-22 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002099 | 10630563 | 200002099 | 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 | 2019-03-21 | 3)receiveddate | 2019-04-01 | 2019-03-21 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002098 | 10119556 | 200002098 | 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 | 2019-06-19 | 1)authoriseddate | 2019-06-26 | 2019-06-19 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing | Nottingham (molecular lab) |
| 200008476 | 10119556 | 200002098 | 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 | 2019-06-19 | 1)authoriseddate | 2019-06-17 | 2019-06-19 | null | 0 | null | SSCP | Royal Marsden (molecular lab) |
| 200002097 | 10004791 | 200002097 | 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 | 2018-08-12 | 1)authoriseddate | 2018-08-10 | 2018-08-12 | null | 0 | null | Pyrosequencing,Roche COBAS | Manchester (molecular lab) |
| 200008475 | 10004791 | 200002097 | 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 | 2018-08-12 | 1)authoriseddate | 2018-09-10 | 2018-08-12 | null | 0 | null | Roche COBAS | Royal Marsden (molecular lab) |
| 200002096 | 10294963 | 200002096 | 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 | 1 | c.1799T>A | c.1799T>A | 2018-12-06 | 1)authoriseddate | 2018-12-16 | 2018-12-06 | p.Val600Glu | 1 | p.Val600Glu | Pyrosequencing | Bristol (molecular lab) |
| 200008474 | 10294963 | 200002096 | 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 | 2018-12-06 | 1)authoriseddate | 2018-11-15 | 2018-12-06 | null | 0 | null | Multiple methods | Birmingham (molecular lab) |
| 200002095 | 11693694 | 200002095 | 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 | 2017-09-01 | 1)authoriseddate | 2017-08-06 | 2017-09-19 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing | Manchester (molecular lab) |
| 200008473 | 11693694 | 200002095 | BRAF | 6 | 1 | 1 | 1 | e:failed | e:failed | 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 | 2017-09-01 | 1)authoriseddate | 2017-08-19 | 2017-09-01 | p.V600K | 1 | p.V600K | SSCP | Royal Marsden (molecular lab) |
| 200002094 | 11357422 | 200002094 | 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 | 2017-10-10 | 3)receiveddate | 2017-10-04 | 2017-10-10 | null | 0 | null | Pyrosequencing | Sheffield (molecular lab) |
| 200002093 | 11445967 | 200002093 | BRAF | 6 | 1 | 1 | 1 | a:abnormal,a:abnormal,a:abnormal | a:abnormal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 1 | c.1799T>A | c.1799T>A | 2017-05-01 | 3)receiveddate | 2017-04-30 | 2017-05-01 | p.Val600Lys | 1 | p.Val600Lys | Roche COBAS | Birmingham (molecular lab) |
| 200008472 | 11445967 | 200002093 | 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.1798_1799delinsAA | c.1798_1799delinsAA | 2017-05-01 | 1)authoriseddate | 2017-05-27 | 2017-05-01 | p.(Val600Lys) | 1 | p.(Val600Lys) | Roche COBAS | Royal Marsden (molecular lab) |
| 200002092 | 11114072 | 200002092 | 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 | 2016-11-22 | 1)authoriseddate | 2016-10-13 | 2016-11-22 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing | Leeds (molecular lab) |
| 200002091 | 10658356 | 200002091 | 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 | 2019-07-15 | 1)authoriseddate | 2019-07-13 | 2019-07-15 | null | 0 | null | Pyrosequencing,Roche COBAS | Manchester (molecular lab) |
| 200008471 | 10658356 | 200002091 | 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 | 2019-07-15 | 1)authoriseddate | 2019-08-11 | 2019-12-07 | null | 0 | null | Roche COBAS | Royal Marsden (molecular lab) |
| 200002090 | 11944947 | 200002090 | 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 | 2017-02-20 | 3)receiveddate | 2017-02-22 | 2017-03-11 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200008470 | 11944947 | 200002090 | 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 | 2017-02-20 | 1)authoriseddate | 2016-12-30 | 2017-02-20 | null | 0 | null | SSCP | Royal Marsden (molecular lab) |
| 200002089 | 11020241 | 200002089 | 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 | 2017-09-28 | 3)receiveddate | 2017-09-28 | 2017-09-28 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200008469 | 11020241 | 200002089 | 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 | 2017-09-28 | 3)receiveddate | 2017-10-08 | 2017-09-28 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002088 | 10896487 | 200002088 | 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 | 2016-03-25 | 1)authoriseddate | 2016-04-23 | 2016-03-25 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing | Nottingham (molecular lab) |
| 200002087 | 10018195 | 200002087 | 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 | 2018-09-16 | 1)authoriseddate | 2018-09-17 | 2018-09-16 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200002086 | 10547372 | 200002086 | 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 | 2019-02-02 | 3)receiveddate | 2019-02-14 | 2019-02-02 | p.(Val600Glu) | 1 | p.(Val600Glu) | Roche COBAS | Birmingham (molecular lab) |
| 200008468 | 10547372 | 200002086 | 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 | 2019-02-02 | 1)authoriseddate | 2019-02-28 | 2019-02-02 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002085 | 11683126 | 200002085 | 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 | 2019-08-29 | 3)receiveddate | 2019-09-10 | 2019-08-29 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002084 | 11999619 | 200002084 | 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 | 2017-10-05 | 1)authoriseddate | 2017-10-18 | 2017-10-05 | null | 0 | null | Unknown | Leeds (molecular lab) |
| 200002083 | 10682255 | 200002083 | BRAF | 6 | 1 | 1 | 1 | 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 | 0 | null | null | 2018-07-16 | 3)receiveddate | 2018-07-30 | 2018-07-16 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200008467 | 10682255 | 200002083 | 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 | 2018-07-16 | 1)authoriseddate | 2018-07-13 | 2018-07-16 | p.V600K | 1 | p.V600K | Pyrosequencing,Roche COBAS | Manchester (molecular lab) |
| 200002082 | 10275777 | 200002082 | 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 | 2018-02-14 | 3)receiveddate | 2018-02-11 | 2018-02-14 | p.(Val600Glu) | 1 | p.(Val600Glu) | Roche COBAS | Birmingham (molecular lab) |
| 200002081 | 10760947 | 200002081 | 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 | 2019-10-15 | 1)authoriseddate | 2019-10-28 | 2019-10-15 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing | Manchester (molecular lab) |
| 200002080 | 10624455 | 200002080 | 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 | 2019-10-06 | 1)authoriseddate | 2019-10-30 | 2019-10-06 | null | 0 | null | Pyrosequencing | Nottingham (molecular lab) |
| 200008466 | 10624455 | 200002080 | BRAF | 6 | 2 | 2 | 2 | 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.1799T>A | c.1799T>A | 2019-10-06 | 1)authoriseddate | 2019-07-09 | 2019-11-08 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing | Exeter (molecular lab) |
| 200002079 | 11269076 | 200002079 | 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 | 2019-10-19 | 3)receiveddate | 2019-09-09 | 2019-10-19 | null | 0 | null | Pyrosequencing | Bristol (molecular lab) |
| 200002078 | 10953304 | 200002078 | BRAF | 6 | 2 | 2 | 2 | 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.1799T>A | c.1799T>A | 2017-04-23 | 1)authoriseddate | 2017-04-26 | 2017-04-23 | p.(Val600Glu) | 1 | p.(Val600Glu) | Sequencing, Dideoxy/Sanger | Exeter (molecular lab) |
| 200008465 | 10953304 | 200002078 | BRAF | 6 | 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 | 2017-04-19 | 2017-04-23 | null | 0 | null | Roche COBAS | Royal Marsden (molecular lab) |
| 200007107 | 11821480 | 200002078 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | null | g:unknown/null | 0 | null | null | null | null | null | null | 0 | null | null | 2019-03-19 | 1)authoriseddate | 2019-02-15 | 2019-03-19 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 200002077 | 11689990 | 200002077 | 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 | 2017-01-02 | 3)receiveddate | 2017-01-04 | 2017-01-02 | null | 0 | null | Pyrosequencing | Bristol (molecular lab) |
| 200002076 | 10884966 | 200002076 | BRAF | 6 | 1 | 1 | 1 | 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 | 1 | c.1799T>A | c.1799T>A | 2018-11-06 | 1)authoriseddate | 2018-11-17 | 2018-11-06 | p.(Val600Arg) | 1 | p.(Val600Arg) | Roche COBAS | Birmingham (molecular lab) |
| 200008464 | 10884966 | 200002076 | 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 | 2018-11-06 | 1)authoriseddate | 2018-11-29 | 2018-11-06 | p.V600E | 1 | p.V600E | Roche COBAS | Sheffield (molecular lab) |
| 200002075 | 11752158 | 200002075 | 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 | 2019-11-18 | 1)authoriseddate | 2019-09-04 | 2019-11-18 | null | 0 | null | Sequencing, Dideoxy/Sanger | Exeter (molecular lab) |
| 200002074 | 11626554 | 200002074 | 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 | 2019-08-08 | 3)receiveddate | 2019-07-08 | 2019-08-08 | p.(Val600Glu) | 1 | p.(Val600Glu) | Roche COBAS | Birmingham (molecular lab) |
| 200002073 | 11121277 | 200002073 | 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 | 2017-08-20 | 3)receiveddate | 2017-08-24 | 2017-08-20 | null | 0 | null | Pyrosequencing | Bristol (molecular lab) |
| 200002072 | 10288904 | 200002072 | 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 | 2016-12-16 | 1)authoriseddate | 2017-01-14 | 2016-12-16 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002071 | 10456953 | 200002071 | 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 | 2017-09-27 | 3)receiveddate | 2017-10-12 | 2017-09-27 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002070 | 10465206 | 200002070 | 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 | 2018-11-12 | 3)receiveddate | 2018-11-02 | 2018-11-12 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200008463 | 10465206 | 200002070 | 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 | 2018-11-12 | 1)authoriseddate | 2018-11-08 | 2018-11-12 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200002069 | 11729152 | 200002069 | 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 | 2019-02-13 | 1)authoriseddate | 2019-01-30 | 2019-02-13 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing | Exeter (molecular lab) |