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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 200002854 | 11980449 | 200002854 | BRAF | 6 | 1 | 3 | 1 | a:abnormal,b:normal,c:borderline | 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 | 2019-01-30 | 1)authoriseddate | 2019-02-05 | 2019-01-30 | p.Val600Glu | 1 | p.Val600Glu | Pyrosequencing | Manchester (molecular lab) |
| 200002855 | 10342356 | 200002855 | 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 | 2016-09-09 | 1)authoriseddate | 2016-07-14 | 2016-09-09 | null | 0 | null | Pyrosequencing,Roche COBAS | Manchester (molecular lab) |
| 200002856 | 11312517 | 200002856 | 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 | 2018-11-17 | 1)authoriseddate | 2018-11-10 | 2018-12-04 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200002859 | 10489884 | 200002859 | 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 | 2017-03-07 | 1)authoriseddate | 2017-03-03 | 2017-03-07 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002860 | 11777669 | 200002860 | 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 | 2017-10-25 | 3)receiveddate | 2017-10-15 | 2017-10-25 | null | 0 | null | Pyrosequencing | Unknown |
| 200002861 | 10863353 | 200002861 | 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 | 2018-03-12 | 1)authoriseddate | 2018-03-09 | 2018-03-12 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200002862 | 10177750 | 200002862 | 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 | 2018-01-02 | 1)authoriseddate | 2018-01-13 | 2018-04-01 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002863 | 11505504 | 200002863 | 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 | 2018-12-17 | 3)receiveddate | 2018-12-15 | 2018-12-17 | null | 0 | null | Pyrosequencing | Bristol (molecular lab) |
| 200002864 | 11085473 | 200002864 | 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 | 2017-07-29 | 3)receiveddate | 2017-08-09 | 2017-07-29 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002865 | 10701023 | 200002865 | 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 | 2017-04-03 | 3)receiveddate | 2016-12-13 | 2017-04-03 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing | Bristol (molecular lab) |
| 200002866 | 10955937 | 200002866 | 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 | 2019-11-13 | 1)authoriseddate | 2019-11-17 | 2019-11-13 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing | Manchester (molecular lab) |
| 200002867 | 11517505 | 200002867 | 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 | 2017-11-11 | 1)authoriseddate | 2017-11-23 | 2017-11-11 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200002868 | 11897334 | 200002868 | 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 | 2019-10-14 | 1)authoriseddate | 2019-11-12 | 2019-10-14 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing | Manchester (molecular lab) |
| 200002869 | 10179189 | 200002869 | 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 | 2018-02-18 | 1)authoriseddate | 2018-03-04 | 2018-02-18 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing | Nottingham (molecular lab) |
| 200002870 | 10523379 | 200002870 | 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 | 2019-09-03 | 1)authoriseddate | 2019-09-08 | 2019-09-03 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200002871 | 11556760 | 200002871 | 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 | 2017-01-09 | 1)authoriseddate | 2017-01-06 | 2017-01-09 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200002872 | 11443989 | 200002872 | 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 | 2016-09-26 | 1)authoriseddate | 2016-09-26 | 2016-09-26 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing,Roche COBAS | Manchester (molecular lab) |
| 200002873 | 11007727 | 200002873 | 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 | 2019-10-17 | 3)receiveddate | 2019-10-09 | 2019-10-17 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002874 | 10085584 | 200002874 | 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 | 2019-07-29 | 3)receiveddate | 2019-08-18 | 2019-07-29 | p.(Val600Glu) | 1 | p.(Val600Glu) | Roche COBAS | Birmingham (molecular lab) |
| 200002875 | 10669055 | 200002875 | 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 | 2017-09-09 | 3)receiveddate | 2017-09-15 | 2019-03-07 | p.(Val600Glu) | 1 | p.(Val600Glu) | Roche COBAS | Birmingham (molecular lab) |
| 200002877 | 10406750 | 200002877 | 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 | 2017-12-03 | 1)authoriseddate | 2017-11-13 | 2017-12-03 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200002878 | 10867404 | 200002878 | BRAF | 6 | 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 | 2017-10-03 | 3)receiveddate | 2017-10-03 | 2017-10-03 | p.V600X | 1 | p.V600X | Roche COBAS | Birmingham (molecular lab) |
| 200002879 | 11871425 | 200002879 | 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 | 2017-03-26 | 1)authoriseddate | 2017-03-12 | 2017-03-26 | p.(Val600Glu) | 1 | p.(Val600Glu) | Roche COBAS | Birmingham (molecular lab) |
| 200002880 | 11510230 | 200002880 | 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 | 2019-11-13 | 3)receiveddate | 2019-11-12 | 2019-11-13 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002881 | 11687586 | 200002881 | 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 | 2017-06-25 | 1)authoriseddate | 2017-06-04 | 2017-06-25 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002882 | 11203910 | 200002882 | 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 | 2018-03-21 | 1)authoriseddate | 2018-03-21 | 2018-03-21 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002883 | 11194910 | 200002883 | BRAF | 6 | 1 | 2 | 1 | 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 | 0 | null | null | 2017-02-13 | 1)authoriseddate | 2017-01-15 | 2017-02-13 | p.V600X | 1 | p.V600X | Roche COBAS | Birmingham (molecular lab) |
| 200002884 | 11953107 | 200002884 | 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.1798_1799delinsAA | c.1798_1799delinsAA | 2019-09-02 | 3)receiveddate | 2019-09-15 | 2019-09-02 | p.(Val600Lys) | 1 | p.(Val600Lys) | Roche COBAS | Birmingham (molecular lab) |
| 200002885 | 10487259 | 200002885 | 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 | 2018-09-17 | 3)receiveddate | 2018-08-26 | 2018-09-17 | null | 0 | null | Pyrosequencing | Bristol (molecular lab) |
| 200002886 | 10899217 | 200002886 | 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.1799_1800delTGinsAT | c.1799_1800delTGinsAT | 2018-04-21 | 1)authoriseddate | 2018-04-19 | 2018-04-21 | p.K601E | 1 | p.K601E | Pyrosequencing | Manchester (molecular lab) |
| 200002887 | 11531830 | 200002887 | 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 | 2017-04-04 | 1)authoriseddate | 2017-04-24 | 2017-04-04 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200002889 | 10351664 | 200002889 | 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 | 2016-10-14 | 1)authoriseddate | 2016-10-30 | 2016-10-14 | p.(Val600Lys) | 1 | p.(Val600Lys) | Unknown | Manchester (molecular lab) |
| 200002890 | 11193735 | 200002890 | 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 | 2018-06-18 | 3)receiveddate | 2018-07-03 | 2018-06-18 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002891 | 11397479 | 200002891 | 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 | 2019-07-08 | 3)receiveddate | 2019-07-01 | 2019-07-08 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002892 | 10868181 | 200002892 | 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 | 2017-03-16 | 1)authoriseddate | 2017-03-30 | 2017-03-16 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002893 | 11843245 | 200002893 | 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 | 2019-08-27 | 1)authoriseddate | 2019-09-01 | 2020-02-23 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200002894 | 10647244 | 200002894 | 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 | 2016-04-08 | 1)authoriseddate | 2016-04-05 | 2016-04-08 | p.(Val600Glu) | 1 | p.(Val600Glu) | Roche COBAS | Birmingham (molecular lab) |
| 200002895 | 11808895 | 200002895 | 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 | 2019-09-26 | 1)authoriseddate | 2019-10-25 | 2019-09-26 | null | 0 | null | Roche COBAS | Manchester (molecular lab) |
| 200002896 | 11557355 | 200002896 | 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 | 2018-10-04 | 3)receiveddate | 2018-07-10 | 2018-10-04 | p.Val600Glu | 1 | p.Val600Glu | Roche COBAS | Birmingham (molecular lab) |
| 200002897 | 11756401 | 200002897 | 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 | 2018-09-25 | 1)authoriseddate | 2018-09-30 | 2018-09-25 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002898 | 11526816 | 200002898 | 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 | 2016-11-15 | 3)receiveddate | 2016-11-27 | 2016-11-15 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002899 | 10835041 | 200002899 | 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 | 2019-05-29 | 3)receiveddate | 2019-06-03 | 2019-07-06 | null | 0 | null | Pyrosequencing | Bristol (molecular lab) |
| 200002900 | 11826726 | 200002900 | 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 | 2018-08-15 | 1)authoriseddate | 2018-09-13 | 2018-08-15 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200002901 | 11000457 | 200002901 | 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 | 2018-08-05 | 1)authoriseddate | 2018-08-16 | 2019-05-25 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200002902 | 11896681 | 200002902 | 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 | 2016-05-01 | 1)authoriseddate | 2016-04-29 | 2016-05-01 | p.Val600Glu | 1 | p.Val600Glu | Pyrosequencing | Manchester (molecular lab) |
| 200002903 | 11643854 | 200002903 | 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 | 2017-04-15 | 1)authoriseddate | 2017-04-14 | 2017-04-15 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing | Manchester (molecular lab) |
| 200002904 | 10636548 | 200002904 | 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 | 2019-01-23 | 3)receiveddate | 2019-02-01 | 2019-01-23 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002905 | 10619834 | 200002905 | 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 | 2016-02-26 | 1)authoriseddate | 2016-03-13 | 2016-02-26 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200002906 | 11008224 | 200002906 | 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 | 2019-11-21 | 3)receiveddate | 2019-12-02 | 2019-11-21 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200002907 | 11592402 | 200002907 | BRAF | 6 | 1 | 2 | 1 | a:abnormal,b:normal | 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 | 2017-08-17 | 1)authoriseddate | 2017-08-16 | 2017-08-17 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing,Roche COBAS | Manchester (molecular lab) |