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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130049705 | 10745834 | 130018732 | 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 | 2018-03-02 | 1)authoriseddate | 2018-03-24 | 2018-03-02 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Exeter (molecular lab) |
| 130049706 | 10672770 | 130018733 | KRAS | 47 | 2 | 2 | 2 | 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 | 2018-05-21 | 1)authoriseddate | 2018-05-14 | 2018-05-21 | p.(Gly12Val) | 1 | p.(Gly12Val) | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130049707 | 10997205 | 130018734 | 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 | 2017-10-26 | 1)authoriseddate | 2017-11-04 | 2017-10-26 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049708 | 11173043 | 130018735 | 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>C | c.34G>C | 2018-07-24 | 1)authoriseddate | 2018-06-11 | 2018-07-24 | p.Gly12Arg | 1 | p.Gly12Arg | Pyrosequencing | Birmingham (molecular lab) |
| 130049709 | 11872894 | 130018736 | 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 | 2018-03-18 | 1)authoriseddate | 2018-04-14 | 2018-03-18 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 130049710 | 11417186 | 130018737 | 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 | 2016-05-20 | 3)receiveddate | 2016-05-16 | 2016-05-20 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049712 | 10346864 | 130018739 | 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.38_39delinsAT | c.38_39delinsAT | 2019-11-26 | 1)authoriseddate | 2018-12-27 | 2019-11-26 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049713 | 11794789 | 130018740 | 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 | 2019-06-15 | 3)receiveddate | 2019-06-30 | 2019-06-15 | p.Gly13Asp | 1 | p.Gly13Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130049714 | 10891027 | 130018741 | 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 | 2018-08-19 | 1)authoriseddate | 2018-08-11 | 2018-08-19 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130049715 | 11261764 | 130018742 | 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.436G>A | c.436G>A | 2016-08-19 | 1)authoriseddate | 2016-09-13 | 2016-08-19 | p.A146X,p.Ala146Thr | 2 | multiple | Pyrosequencing | Birmingham (molecular lab) |
| 130049716 | 10434684 | 130018743 | KRAS | 47 | 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.35G>T | c.35G>T | 2017-12-10 | 1)authoriseddate | 2017-10-27 | 2017-12-10 | p.(Gly12Val) | 1 | p.(Gly12Val) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130049717 | 10119751 | 130018744 | 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 | 2018-02-06 | 3)receiveddate | 2018-02-24 | 2018-02-06 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049718 | 10021145 | 130018745 | 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 | 2016-12-18 | 1)authoriseddate | 2016-11-19 | 2016-12-18 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130049719 | 10665083 | 130018746 | 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 | 2019-10-08 | 3)receiveddate | 2019-10-05 | 2019-10-08 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049720 | 10154011 | 130018747 | 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 | 2019-04-26 | 1)authoriseddate | 2019-03-13 | 2019-04-26 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049721 | 10662882 | 130018748 | 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 | 2016-02-06 | 1)authoriseddate | 2016-03-04 | 2016-02-06 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 130049722 | 11244962 | 130018749 | KRAS | 47 | 1 | 2 | 1 | e:failed,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 | 2018-12-02 | 1)authoriseddate | 2018-12-27 | 2018-12-02 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049723 | 10881248 | 130018750 | 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 | 2018-08-17 | 1)authoriseddate | 2018-06-29 | 2018-08-17 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049724 | 11239482 | 130018751 | 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 | 2019-08-18 | 1)authoriseddate | 2019-04-27 | 2019-08-18 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |
| 130049725 | 11503171 | 130018752 | KRAS | 47 | 1 | 1 | 1 | g:unknown/null | g:unknown/null | 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 | 2019-08-10 | 3)receiveddate | 2019-07-18 | 2019-08-10 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049726 | 11615974 | 130018753 | 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 | 2016-09-16 | 1)authoriseddate | 2016-10-11 | 2016-09-16 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049727 | 10369133 | 130018754 | 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 | 2018-03-03 | 1)authoriseddate | 2018-03-09 | 2018-03-03 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049728 | 11266324 | 130018755 | 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 | 2019-08-19 | 1)authoriseddate | 2018-09-15 | 2019-08-19 | null | 0 | null | Pyrosequencing | Leeds (molecular lab) |
| 130049729 | 10572516 | 130018756 | 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 | 2019-08-08 | 3)receiveddate | 2019-09-04 | 2019-08-08 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130049730 | 11842196 | 130018757 | 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 | 2019-08-07 | 1)authoriseddate | 2019-09-05 | 2019-08-07 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049731 | 11016195 | 130018758 | KRAS | 47 | 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.35G>A | c.35G>A | 2016-09-02 | 3)receiveddate | 2016-08-26 | 2016-09-02 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130049732 | 11398521 | 130018759 | KRAS | 47 | 1 | 3 | 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 | 2019-08-07 | 1)authoriseddate | 2019-08-03 | 2019-08-07 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049733 | 11197898 | 130018760 | 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 | 2018-10-21 | 1)authoriseddate | 2018-11-02 | 2018-10-21 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049734 | 11321829 | 130018761 | 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 | 2017-11-18 | 3)receiveddate | 2017-10-23 | 2017-11-18 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049735 | 10128362 | 130018762 | 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 | 2018-07-05 | 1)authoriseddate | 2018-05-28 | 2018-07-06 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049736 | 11001750 | 130018763 | 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 | 2019-06-16 | 1)authoriseddate | 2019-06-17 | 2019-06-16 | p.Gly13Asp | 1 | p.Gly13Asp | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130049737 | 10393796 | 130018764 | KRAS | 47 | 1 | 3 | 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 | 2018-06-03 | 3)receiveddate | 2018-06-29 | 2018-06-03 | null | 0 | null | Pyrosequencing,Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130049738 | 10928539 | 130018765 | 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 | 2017-09-11 | 1)authoriseddate | 2017-10-04 | 2017-09-11 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049739 | 11174528 | 130018766 | 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 | 2019-01-05 | 3)receiveddate | 2018-12-26 | 2019-01-05 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049740 | 10720318 | 130018767 | KRAS | 47 | 1 | 2 | 1 | e:failed,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 | 2017-12-18 | 3)receiveddate | 2017-10-21 | 2017-12-18 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130049741 | 10643354 | 130018768 | 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 | 2018-07-29 | 1)authoriseddate | 2018-08-14 | 2018-07-29 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Manchester (molecular lab) |
| 130049742 | 11755827 | 130018769 | 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 | 2019-08-13 | 3)receiveddate | 2019-07-28 | 2019-10-30 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049743 | 11745699 | 130018770 | KRAS | 47 | 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.38G>A | c.38G>A | 2019-11-28 | 1)authoriseddate | 2019-12-27 | 2019-12-28 | p.Gly13Asp | 1 | p.Gly13Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130049744 | 10499862 | 130018771 | 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 | 2019-12-12 | 1)authoriseddate | 2020-01-08 | 2019-12-12 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049745 | 10842193 | 130018772 | 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 | 2019-05-21 | 1)authoriseddate | 2019-06-15 | 2019-05-21 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049746 | 11702165 | 130018773 | 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 | 2017-11-18 | 1)authoriseddate | 2017-12-16 | 2017-11-18 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049747 | 10455968 | 130018774 | 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 | 2017-03-22 | 3)receiveddate | 2017-04-20 | 2017-03-22 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130049748 | 11240065 | 130018775 | 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 | 2017-10-18 | 3)receiveddate | 2017-11-16 | 2018-08-20 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049749 | 10326716 | 130018776 | 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 | 2017-12-19 | 3)receiveddate | 2017-12-07 | 2017-12-19 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130049750 | 11780343 | 130018777 | 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 | 2019-03-26 | 1)authoriseddate | 2019-04-03 | 2019-03-26 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 130049751 | 10040063 | 130018778 | 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 | 2018-12-21 | 1)authoriseddate | 2018-12-19 | 2018-12-21 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Manchester (molecular lab) |
| 130049752 | 10484436 | 130018779 | 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.437C>T | c.437C>T | 2019-01-05 | 1)authoriseddate | 2018-04-23 | 2019-01-05 | p.Ala146Val | 1 | p.Ala146Val | Pyrosequencing | Birmingham (molecular lab) |
| 130049753 | 10051102 | 130018780 | 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 | 2017-08-30 | 1)authoriseddate | 2017-04-10 | 2017-08-30 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130049754 | 11650286 | 130018781 | KRAS | 47 | 2 | 2 | 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 | 2019-11-29 | 1)authoriseddate | 2019-11-21 | 2019-11-29 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130049755 | 10088246 | 130018782 | 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 | 2018-09-27 | 1)authoriseddate | 2018-09-27 | 2018-09-27 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |