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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 100031773 | 10977282 | 100031773 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | n:not_applicable_null | n:not_applicable_null | ab:abnormal_over_exp | n:not_applicable_null | n:not_applicable_null | over_exp | 0 | null | null | 2017-11-02 | 3)receiveddate | 2017-11-01 | 2017-11-08 | null | 0 | null | Immunochemistry | Unknown |
| 100151356 | 10977282 | 100031773 | KRAS | 47 | 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 | 2018-01-13 | 1)authoriseddate | 2018-02-05 | 2018-01-13 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100134562 | 10977282 | 100031773 | KRAS | 47 | 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.34G>T | c.34G>T | 2018-01-13 | 1)authoriseddate | 2018-01-16 | 2018-01-13 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |
| 100031772 | 11532332 | 100031772 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | c:borderline | c:borderline | 0 | n:not_applicable_null | n:not_applicable_null | cb:borderline_a_over_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-09-23 | 3)receiveddate | 2019-10-01 | 2019-09-23 | null | 0 | null | Immunochemistry | Pathology lab |
| 100151355 | 11532332 | 100031772 | KRAS | 47 | 4 | 4 | 1 | b:normal,e:failed,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 | 2019-12-23 | 1)authoriseddate | 2019-08-26 | 2019-12-23 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 100134561 | 11532332 | 100031772 | KRAS | 47 | 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 | 2019-11-22 | 3)receiveddate | 2019-08-30 | 2019-11-22 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100031771 | 10929614 | 100031771 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | e:failed | e:failed | 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 | 2019-06-24 | 1)authoriseddate | 2019-06-27 | 2019-08-07 | null | 0 | null | Immunochemistry | Pathology lab |
| 100151354 | 10929614 | 100031771 | KRAS | 47 | 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 | 2019-11-17 | 1)authoriseddate | 2019-11-27 | 2019-11-17 | null | 0 | null | Sequencing, Next Generation (NGS) | Bristol (molecular lab) |
| 100134560 | 10929614 | 100031771 | KRAS | 47 | 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 | 2019-10-27 | 1)authoriseddate | 2019-07-21 | 2019-10-27 | null | 0 | null | Other | Sheffield (molecular lab) |
| 100031770 | 10522036 | 100031770 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | c:borderline | c:borderline | 0 | n:not_applicable_null | n:not_applicable_null | cb:borderline_a_over_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-12-12 | 3)receiveddate | 2016-12-13 | 2016-12-12 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100134559 | 10522036 | 100031770 | KRAS | 47 | 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 | 2017-02-05 | 1)authoriseddate | 2016-12-26 | 2017-02-05 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100151353 | 10522036 | 100031770 | KRAS | 47 | 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.35G>A | c.35G>A | 2017-02-05 | 1)authoriseddate | 2017-03-05 | 2017-02-05 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Mass Spectrometry Genotyping / MALDI-TOF | Birmingham (molecular lab) |
| 100031769 | 10550837 | 100031769 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | b:normal_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-02-17 | 3)receiveddate | 2016-02-14 | 2016-02-17 | null | 0 | null | Immunochemistry | Pathology lab |
| 100134558 | 10550837 | 100031769 | KRAS | 47 | 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 | 2016-10-14 | 1)authoriseddate | 2016-02-28 | 2016-10-14 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Royal Marsden (molecular lab) |
| 100151352 | 10550837 | 100031769 | KRAS | 47 | 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.35G>T | c.35G>T | 2016-10-25 | 1)authoriseddate | 2016-11-05 | 2016-10-25 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 100031768 | 11003705 | 100031768 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | b:normal_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-06-02 | 1)authoriseddate | 2017-06-02 | 2017-06-02 | null | 0 | null | Immunochemistry | Pathology lab |
| 100031767 | 11457289 | 100031767 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | n:not_applicable_null | n:not_applicable_null | ab:abnormal_over_exp | n:not_applicable_null | n:not_applicable_null | over_exp | 0 | null | null | 2017-09-23 | 3)receiveddate | 2017-09-23 | 2017-09-23 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100134557 | 11457289 | 100031767 | KRAS | 47 | 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 | 2017-12-05 | 1)authoriseddate | 2017-12-30 | 2017-12-05 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100151351 | 11457289 | 100031767 | KRAS | 47 | 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.35G>A | c.35G>A | 2018-03-10 | 3)receiveddate | 2018-04-02 | 2018-03-10 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 100031766 | 10186896 | 100031766 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | c:borderline | c:borderline | 0 | n:not_applicable_null | n:not_applicable_null | cb:borderline_a_over_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-09-14 | 1)authoriseddate | 2019-09-14 | 2019-09-14 | null | 0 | null | Immunochemistry | Royal Marsden (molecular lab) |
| 100134556 | 10186896 | 100031766 | KRAS | 47 | 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 | 2019-11-02 | 3)receiveddate | 2019-11-27 | 2019-11-02 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100031765 | 11070474 | 100031765 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | b:normal_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-11-21 | 3)receiveddate | 2016-11-23 | 2016-11-21 | null | 0 | null | Immunochemistry | Pathology lab |
| 100031764 | 11212767 | 100031764 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | a:abnormal,a:abnormal | a:abnormal | 1 | n:not_applicable_null | n:not_applicable_null | ab:abnormal_over_exp | n:not_applicable_null | n:not_applicable_null | over_exp | 0 | null | null | 2016-02-24 | 3)receiveddate | 2016-02-25 | 2016-02-24 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100031763 | 10827488 | 100031763 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | n:not_applicable_null | n:not_applicable_null | ab:abnormal_over_exp | n:not_applicable_null | n:not_applicable_null | over_exp | 0 | null | null | 2016-11-30 | 3)receiveddate | 2016-11-30 | 2016-11-30 | null | 0 | null | Immunochemistry | Unknown |
| 100151349 | 10827488 | 100031763 | KRAS | 47 | 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 | 2017-03-12 | 1)authoriseddate | 2017-04-06 | 2017-03-12 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 100134555 | 10827488 | 100031763 | KRAS | 47 | 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.34G>T | c.34G>T | 2017-02-11 | 1)authoriseddate | 2016-12-22 | 2017-02-11 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Mass Spectrometry Genotyping / MALDI-TOF | Manchester (molecular lab) |
| 100031762 | 11229503 | 100031762 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | b:normal_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-01-28 | 1)authoriseddate | 2019-01-28 | 2019-01-28 | null | 0 | null | Immunochemistry | Royal Marsden (molecular lab) |
| 100031761 | 11534757 | 100031761 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | b:normal_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-11-03 | 3)receiveddate | 2019-11-03 | 2019-11-03 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100031760 | 11165655 | 100031760 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | n:not_applicable_null | n:not_applicable_null | ab:abnormal_over_exp | n:not_applicable_null | n:not_applicable_null | over_exp | 0 | null | null | 2018-03-06 | 3)receiveddate | 2018-03-07 | 2018-03-06 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100151348 | 11165655 | 100031760 | KRAS | 47 | 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.37G>T | c.37G>T | 2018-06-24 | 1)authoriseddate | 2018-05-07 | 2018-06-24 | p.(Gly12Ser) | 1 | p.(Gly12Ser) | Mass Spectrometry Genotyping / MALDI-TOF | Manchester (molecular lab) |
| 100134554 | 11165655 | 100031760 | KRAS | 47 | 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.34G>T | c.34G>T | 2018-05-02 | 1)authoriseddate | 2018-03-12 | 2018-05-02 | p.Gly12Cys | 1 | p.Gly12Cys | Sequencing, Next Generation (NGS) | Sheffield (molecular lab) |
| 100031759 | 10633503 | 100031759 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | b:normal_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-09-02 | 3)receiveddate | 2018-09-05 | 2018-09-02 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100031758 | 10636627 | 100031758 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | b:normal_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-05-21 | 3)receiveddate | 2019-05-21 | 2019-05-28 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100151347 | 10636627 | 100031758 | KRAS | 47 | 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.38G>A | c.38G>A | 2019-07-03 | 3)receiveddate | 2019-05-31 | 2019-07-03 | p.(Gln61His) | 1 | p.(Gln61His) | Pyrosequencing | Birmingham (molecular lab) |
| 100134553 | 10636627 | 100031758 | KRAS | 47 | 1 | 1 | 1 | e:failed | e:failed | 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 | 2019-07-03 | 1)authoriseddate | 2019-06-17 | 2019-07-03 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 100031757 | 11882047 | 100031757 | CD274 (PD-L1) | 4842 | 2 | 2 | 2 | b:normal,b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | b:normal_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-09-21 | 3)receiveddate | 2016-09-19 | 2016-09-21 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100031756 | 10452264 | 100031756 | CD274 (PD-L1) | 4842 | 1 | 2 | 1 | b:normal,b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | b:normal_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-11-03 | 3)receiveddate | 2019-11-02 | 2019-11-03 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100031755 | 11123436 | 100031755 | CD274 (PD-L1) | 4842 | 1 | 2 | 1 | c:borderline,c:borderline | c:borderline | 0 | n:not_applicable_null | n:not_applicable_null | cb:borderline_a_over_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-02-14 | 3)receiveddate | 2019-02-18 | 2019-02-14 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100031754 | 10598994 | 100031754 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | b:normal_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-03-27 | 3)receiveddate | 2019-03-26 | 2019-03-27 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100031753 | 10464071 | 100031753 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | n:not_applicable_null | n:not_applicable_null | ab:abnormal_over_exp | n:not_applicable_null | n:not_applicable_null | over_exp | 0 | null | null | 2018-11-29 | 3)receiveddate | 2018-11-24 | 2018-11-29 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100031752 | 11829129 | 100031752 | CD274 (PD-L1) | 4842 | 1 | 2 | 1 | b:normal,b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | b:normal_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-02-14 | 1)authoriseddate | 2018-03-08 | 2018-02-14 | null | 0 | null | Immunochemistry | Pathology lab |
| 100031751 | 10464615 | 100031751 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | n:not_applicable_null | n:not_applicable_null | ab:abnormal_over_exp | n:not_applicable_null | n:not_applicable_null | over_exp | 0 | null | null | 2017-02-03 | 3)receiveddate | 2017-02-05 | 2017-02-03 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100031750 | 11031254 | 100031750 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | b:normal_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-01-27 | 3)receiveddate | 2019-01-27 | 2019-01-27 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100151346 | 11031254 | 100031750 | KRAS | 47 | 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.35G>T | c.35G>T | 2019-02-18 | 1)authoriseddate | 2019-03-12 | 2019-02-18 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 100134552 | 11031254 | 100031750 | KRAS | 47 | 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.34G>T | c.34G>T | 2019-02-18 | 3)receiveddate | 2019-03-09 | 2019-02-18 | p.Gly12Cys | 1 | p.Gly12Cys | Pyrosequencing | Birmingham (molecular lab) |
| 100031749 | 10230842 | 100031749 | CD274 (PD-L1) | 4842 | 1 | 2 | 1 | b:normal,b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | b:normal_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-08-20 | 3)receiveddate | 2016-08-20 | 2016-08-27 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 100031748 | 11945825 | 100031748 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | n:not_applicable_null | n:not_applicable_null | ab:abnormal_over_exp | n:not_applicable_null | n:not_applicable_null | over_exp | 0 | null | null | 2017-02-05 | 1)authoriseddate | 2017-02-02 | 2017-02-05 | null | 0 | null | Immunochemistry | Unknown |
| 100031747 | 10639599 | 100031747 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | n:not_applicable_null | n:not_applicable_null | ab:abnormal_over_exp | n:not_applicable_null | n:not_applicable_null | over_exp | 0 | null | null | 2016-02-12 | 1)authoriseddate | 2016-02-14 | 2016-02-12 | null | 0 | null | Immunochemistry | Unknown |
| 100031746 | 11542863 | 100031746 | CD274 (PD-L1) | 4842 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | b:normal_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-03-14 | 1)authoriseddate | 2018-03-10 | 2018-03-14 | null | 0 | null | Immunochemistry | Pathology lab |
| 100151345 | 11542863 | 100031746 | KRAS | 47 | 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.34G>T | c.34G>T | 2018-10-26 | 1)authoriseddate | 2018-03-21 | 2018-10-26 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |