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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130015934 | 11878550 | 130015934 | NRAS | 56 | 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 | 2018-10-05 | 1)authoriseddate | 2018-10-08 | 2018-10-05 | null | 0 | null | Pyrosequencing | Bristol (molecular lab) |
| 130117062 | 10681392 | 130005674 | 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 | 2018-03-09 | 1)authoriseddate | 2018-03-02 | 2018-03-09 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Manchester (molecular lab) |
| 130117063 | 11001846 | 130005678 | 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 | 2019-07-20 | 1)authoriseddate | 2019-08-13 | 2019-07-20 | null | 0 | null | Pyrosequencing | Leeds (molecular lab) |
| 130117066 | 11284061 | 130005684 | 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 | 2019-10-13 | 1)authoriseddate | 2019-10-16 | 2019-10-13 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117067 | 10997747 | 130005686 | KRAS | 47 | 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 | 2019-03-24 | 1)authoriseddate | 2019-04-15 | 2019-03-27 | null | 0 | null | Pyrosequencing | Cambridge (molecular lab) |
| 130117068 | 10136079 | 130005687 | 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 | 2019-05-22 | 3)receiveddate | 2019-05-17 | 2019-05-22 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117069 | 10198592 | 130005691 | 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 | 2018-04-22 | 1)authoriseddate | 2018-05-17 | 2018-04-22 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117070 | 10887965 | 130005693 | 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 | 2016-07-03 | 1)authoriseddate | 2016-06-14 | 2016-07-03 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117071 | 10508777 | 130005695 | 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 | 2017-03-30 | 1)authoriseddate | 2017-01-05 | 2017-03-30 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117072 | 10929909 | 130005697 | KRAS | 47 | 1 | 2 | 1 | a:abnormal,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 | 2019-04-09 | 1)authoriseddate | 2019-05-09 | 2019-04-09 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Royal Marsden (molecular lab) |
| 130117073 | 10670627 | 130005698 | 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 | 2017-07-05 | 1)authoriseddate | 2017-06-13 | 2017-07-05 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117074 | 11851070 | 130005702 | 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 | 2019-04-02 | 1)authoriseddate | 2019-03-07 | 2019-04-02 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117075 | 10301380 | 130005703 | 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 | 2019-03-15 | 1)authoriseddate | 2019-03-17 | 2019-03-15 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130117076 | 11864141 | 130005706 | 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 | 2019-09-27 | 1)authoriseddate | 2019-10-26 | 2019-09-27 | null | 0 | null | Pyrosequencing | Bristol (molecular lab) |
| 130117078 | 11470348 | 130005709 | 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 | 2018-10-15 | 3)receiveddate | 2018-10-17 | 2018-10-15 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130117079 | 10108797 | 130005710 | 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 | 2019-09-27 | 1)authoriseddate | 2019-09-25 | 2019-09-27 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |
| 130117080 | 10760081 | 130005711 | 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 | 2019-01-04 | 1)authoriseddate | 2019-01-21 | 2019-01-04 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117082 | 11079308 | 130005713 | 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 | 2019-08-31 | 1)authoriseddate | 2019-09-17 | 2019-08-31 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117084 | 10330270 | 130005716 | 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 | 2016-12-20 | 1)authoriseddate | 2016-12-24 | 2016-12-20 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130117085 | 11252964 | 130005717 | 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 | 2 | c.34F>T,c.34G>T | multiple | 2018-10-12 | 1)authoriseddate | 2018-11-09 | 2018-10-12 | p.Gly13Asp | 1 | p.Gly13Asp | Pyrosequencing | Nottingham (molecular lab) |
| 130117086 | 11606318 | 130005720 | 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 | 2017-03-29 | 1)authoriseddate | 2017-04-24 | 2017-03-29 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130117087 | 10738913 | 130005721 | 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 | 2018-03-23 | 1)authoriseddate | 2018-04-07 | 2018-03-23 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117089 | 11922027 | 130005724 | 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 | 2019-03-20 | 1)authoriseddate | 2019-04-18 | 2019-03-20 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130117090 | 10460510 | 130005726 | 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 | 2019-05-29 | 3)receiveddate | 2019-05-03 | 2019-06-05 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117092 | 10939119 | 130005729 | 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 | 2019-11-18 | 1)authoriseddate | 2019-09-13 | 2019-11-18 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117093 | 10551278 | 130005730 | 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 | 2018-06-15 | 1)authoriseddate | 2018-06-16 | 2018-06-15 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117094 | 11058847 | 130005732 | 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 | 2019-10-26 | 1)authoriseddate | 2019-11-23 | 2019-10-26 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117096 | 11910681 | 130005734 | 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 | 2018-11-25 | 1)authoriseddate | 2018-07-17 | 2018-11-25 | null | 0 | null | Pyrosequencing | Leeds (molecular lab) |
| 130117097 | 11424899 | 130005735 | 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 | 2019-02-10 | 1)authoriseddate | 2019-01-13 | 2019-02-10 | p.(Ala146Val) | 1 | p.(Ala146Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130117098 | 11262785 | 130005736 | KRAS | 47 | 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 | 2019-04-15 | 3)receiveddate | 2019-01-16 | 2019-04-15 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130117099 | 10222047 | 130005738 | 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 | 2019-04-17 | 1)authoriseddate | 2019-05-08 | 2019-04-17 | p.(Ala146Thr) | 1 | p.(Ala146Thr) | Pyrosequencing | Birmingham (molecular lab) |
| 130117103 | 11343037 | 130005744 | 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 | 2017-03-14 | 3)receiveddate | 2017-03-19 | 2017-03-14 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117104 | 11830318 | 130005746 | 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 | 2019-10-03 | 1)authoriseddate | 2019-10-17 | 2019-10-03 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117107 | 11462480 | 130005750 | 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 | 2017-05-07 | 1)authoriseddate | 2017-05-10 | 2017-05-07 | null | 0 | null | Pyrosequencing | Nottingham (molecular lab) |
| 130117108 | 10095304 | 130005752 | 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 | 2019-10-27 | 1)authoriseddate | 2019-11-24 | 2019-10-27 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130117109 | 11291266 | 130005754 | 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 | 2017-11-27 | 3)receiveddate | 2017-12-27 | 2017-11-27 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117111 | 11029595 | 130005757 | 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 | 2016-11-05 | 1)authoriseddate | 2016-10-14 | 2016-11-05 | p.(Gly13Asp),p.Gly13Asp | 2 | multiple | Pyrosequencing | Birmingham (molecular lab) |
| 130117113 | 11414907 | 130005759 | 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 | 2018-07-21 | 1)authoriseddate | 2018-07-11 | 2018-07-21 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117114 | 11907584 | 130005760 | 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 | 2018-05-25 | 1)authoriseddate | 2018-05-31 | 2018-05-25 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130117116 | 10342710 | 130005762 | 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 | 2019-02-23 | 1)authoriseddate | 2019-01-22 | 2019-02-23 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130117118 | 11553299 | 130005766 | 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 | 2019-07-02 | 1)authoriseddate | 2019-06-26 | 2019-07-02 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130117119 | 10636265 | 130005770 | 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 | 2018-08-04 | 3)receiveddate | 2018-06-19 | 2018-08-04 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117120 | 11595427 | 130005772 | 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 | 2019-02-01 | 1)authoriseddate | 2019-01-27 | 2019-02-01 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130117121 | 11342466 | 130005774 | 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 | 2018-12-07 | 1)authoriseddate | 2019-01-03 | 2018-12-07 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Manchester (molecular lab) |
| 130117122 | 11666973 | 130005775 | 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_39delinsAG | c.38_39delinsAG | 2017-04-09 | 3)receiveddate | 2017-07-11 | 2017-12-22 | p.(Ala59Gly) | 1 | p.(Ala59Gly) | Pyrosequencing | Birmingham (molecular lab) |
| 130117123 | 11616967 | 130005776 | 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>A | c.34G>A | 2016-12-11 | 1)authoriseddate | 2016-12-18 | 2016-12-11 | p.(p.Gly12Ser) | 1 | p.(p.Gly12Ser) | Pyrosequencing | Exeter (molecular lab) |
| 130117124 | 11596202 | 130005779 | 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 | 2019-08-24 | 1)authoriseddate | 2019-08-24 | 2019-08-24 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130117125 | 10396887 | 130005780 | 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 | 2018-07-10 | 2018-10-21 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130117127 | 11836894 | 130005783 | 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 | 2019-03-12 | 1)authoriseddate | 2019-02-12 | 2019-03-12 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117130 | 10753098 | 130005790 | 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 | 2018-11-17 | 1)authoriseddate | 2018-11-16 | 2018-11-17 | p.Gly13Asp | 1 | p.Gly13Asp | Pyrosequencing | Manchester (molecular lab) |