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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 200002786 | 11425912 | 200002786 | BRAF | 6 | 2 | 2 | 2 | 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 | 2016-05-06 | 1)authoriseddate | 2016-05-18 | 2016-05-06 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200002787 | 10051176 | 200002787 | 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 | 2017-11-09 | 1)authoriseddate | 2016-06-04 | 2017-11-09 | p.(Val600Glu) | 1 | p.(Val600Glu) | Roche COBAS | Birmingham (molecular lab) |
| 200002788 | 10638890 | 200002788 | 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 | 2018-12-20 | 1)authoriseddate | 2019-01-01 | 2018-12-20 | null | 0 | null | Pyrosequencing | Leeds (molecular lab) |
| 200002789 | 11289457 | 200002789 | 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 | 2018-11-23 | 1)authoriseddate | 2018-11-21 | 2018-11-23 | null | 0 | null | Sequencing, Dideoxy/Sanger | Exeter (molecular lab) |
| 200002790 | 10355256 | 200002790 | 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 | 2018-08-14 | 3)receiveddate | 2018-08-10 | 2018-08-27 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002791 | 11256181 | 200002791 | 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 | 2016-10-09 | 3)receiveddate | 2016-10-15 | 2016-10-09 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002792 | 10016170 | 200002792 | 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 | 2016-04-29 | 1)authoriseddate | 2016-04-20 | 2016-04-29 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing | Manchester (molecular lab) |
| 200002793 | 10343186 | 200002793 | 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 | 2016-10-17 | 1)authoriseddate | 2016-10-15 | 2016-10-17 | null | 0 | null | Pyrosequencing | Nottingham (molecular lab) |
| 200002794 | 11171182 | 200002794 | BRAF | 6 | 1 | 3 | 1 | b:normal,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 | 2019-04-02 | 3)receiveddate | 2019-04-07 | 2019-04-22 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002795 | 11625117 | 200002795 | 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.1795_1797dup | c.1795_1797dup | 2018-12-05 | 1)authoriseddate | 2018-11-25 | 2018-12-05 | p.Thr599dup | 1 | p.Thr599dup | Pyrosequencing | Manchester (molecular lab) |
| 200002797 | 11904850 | 200002797 | 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 | 2017-04-20 | 1)authoriseddate | 2017-03-31 | 2017-04-20 | null | 0 | null | Sequencing, Dideoxy/Sanger | Exeter (molecular lab) |
| 200002798 | 10821003 | 200002798 | 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 | 2016-02-29 | 3)receiveddate | 2016-02-27 | 2016-02-29 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing | Bristol (molecular lab) |
| 200002799 | 11226031 | 200002799 | 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 | 2017-10-01 | 1)authoriseddate | 2017-09-30 | 2017-10-01 | null | 0 | null | Pyrosequencing | Nottingham (molecular lab) |
| 200002800 | 10670307 | 200002800 | 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 | 2019-10-27 | 1)authoriseddate | 2019-09-21 | 2019-10-27 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002801 | 11533390 | 200002801 | 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 | 1 | c.1798_1799delinsAA | c.1798_1799delinsAA | 2019-06-05 | 3)receiveddate | 2019-06-16 | 2019-06-05 | p.Val600Asp | 1 | p.Val600Asp | Roche COBAS | Birmingham (molecular lab) |
| 200002802 | 11184428 | 200002802 | BRAF | 6 | 1 | 3 | 1 | b:normal,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 | 2019-03-02 | 1)authoriseddate | 2019-03-28 | 2019-03-02 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200002803 | 10526515 | 200002803 | 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 | 2018-08-27 | 3)receiveddate | 2018-08-30 | 2020-09-27 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002804 | 11571062 | 200002804 | 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 | 2019-08-22 | 1)authoriseddate | 2019-09-01 | 2019-08-22 | null | 0 | null | Pyrosequencing | Leeds (molecular lab) |
| 200002805 | 10124752 | 200002805 | 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 | 2016-06-27 | 1)authoriseddate | 2016-06-15 | 2016-06-27 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing,Roche COBAS | Manchester (molecular lab) |
| 200002806 | 11164560 | 200002806 | BRAF | 6 | 2 | 2 | 2 | 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 | 2016-12-15 | 1)authoriseddate | 2016-12-17 | 2016-12-15 | null | 0 | null | Sequencing, Dideoxy/Sanger | Exeter (molecular lab) |
| 200002807 | 11548637 | 200002807 | 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 | 2019-11-15 | 2019-11-18 | null | 0 | null | Roche COBAS | Nottingham (molecular lab) |
| 200002808 | 10317030 | 200002808 | 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 | 2018-07-25 | 3)receiveddate | 2018-07-01 | 2018-07-25 | null | 0 | null | Roche COBAS | Bristol (molecular lab) |
| 200002809 | 11833543 | 200002809 | 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 | 2019-06-03 | 1)authoriseddate | 2019-06-15 | 2019-06-03 | null | 0 | null | Pyrosequencing | Nottingham (molecular lab) |
| 200002810 | 11899846 | 200002810 | 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 | 2016-09-23 | 3)receiveddate | 2016-10-01 | 2016-09-23 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002811 | 11632396 | 200002811 | 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 | 2017-08-25 | 1)authoriseddate | 2017-09-07 | 2017-08-25 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002812 | 10333587 | 200002812 | 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 | 2018-01-09 | 1)authoriseddate | 2017-05-11 | 2018-01-09 | p.Val600Glu | 1 | p.Val600Glu | Pyrosequencing | Manchester (molecular lab) |
| 200002813 | 10139758 | 200002813 | 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 | 2018-02-26 | 1)authoriseddate | 2018-02-21 | 2018-02-26 | null | 0 | null | Pyrosequencing,Roche COBAS | Manchester (molecular lab) |
| 200002814 | 11285927 | 200002814 | BRAF | 6 | 1 | 1 | 1 | e:failed | e:failed | 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 | 2019-08-21 | 1)authoriseddate | 2019-08-22 | 2019-08-21 | p.(Val600Lys),p.(Val600Lys) | 1 | p.(Val600Lys),p.(Val600Lys) | Pyrosequencing | Manchester (molecular lab) |
| 200002815 | 11475155 | 200002815 | 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 | 2017-05-05 | 3)receiveddate | 2017-05-10 | 2017-05-17 | p.(Val600Glu) | 1 | p.(Val600Glu) | Roche COBAS | Birmingham (molecular lab) |
| 200002816 | 10599267 | 200002816 | 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 | 2017-05-07 | 3)receiveddate | 2017-05-28 | 2017-05-07 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002817 | 11499944 | 200002817 | 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 | 2019-04-17 | 3)receiveddate | 2019-04-12 | 2019-04-17 | p.(Val600Glu) | 1 | p.(Val600Glu) | Roche COBAS | Birmingham (molecular lab) |
| 200002818 | 11770392 | 200002818 | 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 | 2018-11-30 | 1)authoriseddate | 2018-12-04 | 2018-11-30 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200002819 | 11387615 | 200002819 | BRAF | 6 | 1 | 3 | 1 | b:normal,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 | 2018-11-19 | 1)authoriseddate | 2018-10-26 | 2018-11-19 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002820 | 11919445 | 200002820 | 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 | 2017-05-06 | 1)authoriseddate | 2017-05-12 | 2017-05-06 | null | 0 | null | Sequencing, Dideoxy/Sanger | Exeter (molecular lab) |
| 200002821 | 11918670 | 200002821 | 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 | 2016-09-09 | 3)receiveddate | 2016-08-10 | 2016-09-09 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002822 | 11665454 | 200002822 | 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 | 2018-04-13 | 3)receiveddate | 2018-03-02 | 2018-04-13 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002823 | 10558496 | 200002823 | 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 | 2016-11-18 | 3)receiveddate | 2016-11-21 | 2016-11-18 | null | 0 | null | Pyrosequencing | Bristol (molecular lab) |
| 200002824 | 10412038 | 200002824 | 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 | 2016-04-11 | 3)receiveddate | 2016-03-26 | 2016-04-11 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002825 | 10276817 | 200002825 | 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 | 2018-06-09 | 3)receiveddate | 2018-06-20 | 2018-06-09 | null | 0 | null | Pyrosequencing | Bristol (molecular lab) |
| 200002826 | 11580449 | 200002826 | 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 | 2018-09-12 | 1)authoriseddate | 2018-09-12 | 2018-09-12 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200002827 | 11042877 | 200002827 | 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 | 2016-11-03 | 3)receiveddate | 2016-10-30 | 2016-11-03 | p.V600E | 1 | p.V600E | Roche COBAS | Birmingham (molecular lab) |
| 200002828 | 11235504 | 200002828 | 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 | 2019-03-25 | 3)receiveddate | 2019-03-22 | 2019-03-25 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002829 | 11213611 | 200002829 | 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 | 2019-05-28 | 1)authoriseddate | 2019-05-30 | 2019-05-28 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002830 | 11987406 | 200002830 | 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 | 2019-09-07 | 3)receiveddate | 2019-09-07 | 2020-08-02 | p.(Val600Glu) | 1 | p.(Val600Glu) | Real-Time / Quantitative PCR (qPCR) | Birmingham (molecular lab) |
| 200002831 | 10236642 | 200002831 | 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 | 2018-07-16 | 3)receiveddate | 2018-07-23 | 2018-07-16 | p.(Val600Lys) | 1 | p.(Val600Lys) | Roche COBAS | Birmingham (molecular lab) |
| 200002832 | 11792431 | 200002832 | 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 | 2018-11-05 | 3)receiveddate | 2018-11-01 | 2018-11-05 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002833 | 11923948 | 200002833 | BRAF | 6 | 1 | 2 | 1 | e:failed,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 | 2016-05-28 | 1)authoriseddate | 2016-06-02 | 2016-05-28 | p.(Val600Glu) | 1 | p.(Val600Glu) | Roche COBAS | Birmingham (molecular lab) |
| 200002834 | 10914966 | 200002834 | 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 | 2017-12-09 | 3)receiveddate | 2017-12-15 | 2017-12-09 | p.Val600Lys | 1 | p.Val600Lys | Roche COBAS | Birmingham (molecular lab) |
| 200002835 | 10123431 | 200002835 | 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 | 2019-02-24 | 1)authoriseddate | 2019-02-22 | 2019-02-24 | null | 0 | null | Sequencing, Dideoxy/Sanger | Exeter (molecular lab) |
| 200002836 | 10697977 | 200002836 | BRAF | 6 | 1 | 1 | 1 | f:not_tested | f:not_tested | 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 | 2018-03-09 | 1)authoriseddate | 2018-03-07 | 2018-03-09 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing | Nottingham (molecular lab) |