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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 220003655 | 11686302 | 220000940 | IDH2 | 42 | 1 | 1 | 1 | a:abnormal | a:abnormal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 1 | c.394C>A | c.394C>A | 2017-05-10 | 3)receiveddate | 2017-04-27 | 2017-05-10 | p.(Arg132Cys) | 1 | p.(Arg132Cys) | Real-Time / Quantitative PCR (qPCR) | Birmingham (molecular lab) |
| 220003656 | 10451017 | 220000941 | IDH1 | 41 | 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 | 2017-04-16 | 1)authoriseddate | 2017-04-22 | 2017-04-16 | null | 0 | null | Real-Time / Quantitative PCR (qPCR) | Cambridge (molecular lab) |
| 220003657 | 10943573 | 220000942 | IDH1 | 41 | 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.395G>A | c.395G>A | 2019-07-06 | 1)authoriseddate | 2019-08-04 | 2019-07-06 | p.(Arg132His) | 1 | p.(Arg132His) | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220003658 | 10793264 | 220000943 | IDH2 | 42 | 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 | 2018-10-17 | 1)authoriseddate | 2018-10-27 | 2018-10-17 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 220003659 | 10302823 | 220000945 | IDH1 | 41 | 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.395G>A | c.395G>A | 2017-10-24 | 2)requesteddate | 2017-11-21 | 2017-10-24 | p.(Arg132His) | 1 | p.(Arg132His) | Immunochemistry | Cambridge (molecular lab) |
| 220003660 | 11522537 | 220000946 | IDH1 | 41 | 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 | 2018-10-09 | 3)receiveddate | 2018-11-06 | 2018-10-09 | null | 0 | null | Real-Time / Quantitative PCR (qPCR) | Cambridge (molecular lab) |
| 220003661 | 11436515 | 220000947 | IDH1 | 41 | 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 | 2016-07-12 | 2)requesteddate | 2016-08-10 | 2016-07-12 | p.(Arg172Thr) | 1 | p.(Arg172Thr) | Immunochemistry | Manchester (molecular lab) |
| 220003662 | 11519595 | 220000948 | IDH2 | 42 | 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 | 1)authoriseddate | 2019-12-09 | 2019-11-22 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 220003663 | 10387503 | 220000949 | IDH1 | 41 | 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 | 2018-01-14 | 2)requesteddate | 2017-10-23 | 2018-01-14 | null | 0 | null | Immunochemistry | Cambridge (molecular lab) |
| 220003664 | 10786349 | 220000950 | IDH2 | 42 | 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 | 2017-11-30 | 1)authoriseddate | 2017-11-29 | 2017-11-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 220003665 | 10426179 | 220000951 | IDH2 | 42 | 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 | 2019-11-01 | 3)receiveddate | 2019-10-05 | 2019-11-01 | null | 0 | null | Real-Time / Quantitative PCR (qPCR) | Birmingham (molecular lab) |
| 220003666 | 11936061 | 220000952 | IDH1 | 41 | 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 | 2019-02-15 | 1)authoriseddate | 2019-03-10 | 2019-02-15 | null | 0 | null | Real-Time / Quantitative PCR (qPCR) | Cambridge (molecular lab) |
| 220003667 | 10672049 | 220000954 | IDH1 | 41 | 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 | 2016-08-24 | 1)authoriseddate | 2016-09-10 | 2016-08-24 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 220003668 | 10708052 | 220000956 | IDH2 | 42 | 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 | 2019-02-01 | 2019-01-05 | null | 0 | null | Real-Time / Quantitative PCR (qPCR) | Birmingham (molecular lab) |
| 220003669 | 11866944 | 220000958 | IDH1 | 41 | 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 | 2019-11-25 | 3)receiveddate | 2019-11-26 | 2020-02-04 | null | 0 | null | Real-Time / Quantitative PCR (qPCR) | Birmingham (molecular lab) |
| 220003670 | 11791707 | 220000959 | IDH2 | 42 | 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 | 2017-02-03 | 1)authoriseddate | 2017-02-15 | 2017-02-03 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 220003671 | 10998392 | 220000960 | IDH2 | 42 | 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 | 2019-09-11 | 1)authoriseddate | 2019-09-17 | 2019-09-11 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 220003672 | 11844056 | 220000961 | IDH1 | 41 | 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 | 2019-09-30 | 2019-10-08 | null | 0 | null | Real-Time / Quantitative PCR (qPCR) | Birmingham (molecular lab) |
| 220003673 | 11914304 | 220000962 | IDH1 | 41 | 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 | 2018-01-26 | 2)requesteddate | 2018-01-20 | 2018-01-26 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 220003674 | 11998728 | 220000963 | IDH2 | 42 | 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 | 2019-07-23 | 1)authoriseddate | 2019-08-21 | 2019-07-23 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220003675 | 10400336 | 220000964 | IDH1 | 41 | 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 | 2017-09-13 | 1)authoriseddate | 2017-09-16 | 2017-09-13 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220003676 | 10833295 | 220000965 | IDH2 | 42 | 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 | 2018-02-07 | 1)authoriseddate | 2017-09-20 | 2018-02-07 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220003677 | 11451638 | 220000966 | IDH1 | 41 | 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 | 2017-05-01 | 1)authoriseddate | 2017-05-08 | 2017-05-01 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220003678 | 11537666 | 220000967 | IDH1 | 41 | 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 | 2016-03-10 | 1)authoriseddate | 2016-03-23 | 2016-03-10 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220003679 | 10421078 | 220000968 | IDH1 | 41 | 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 | 2016-11-11 | 1)authoriseddate | 2016-11-20 | 2016-11-11 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220003680 | 11789753 | 220000969 | IDH2 | 42 | 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.395G>A | c.395G>A | 2019-10-04 | 1)authoriseddate | 2019-10-28 | 2019-10-04 | p.(Arg132Cys) | 1 | p.(Arg132Cys) | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 220003681 | 10763234 | 220000970 | IDH1 | 41 | 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.395G>A | c.395G>A | 2016-10-19 | 2)requesteddate | 2016-10-14 | 2016-10-19 | p.(Arg132His) | 1 | p.(Arg132His) | Immunochemistry | Manchester (molecular lab) |
| 220003682 | 10224532 | 220000971 | IDH2 | 42 | 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 | 2019-07-24 | 1)authoriseddate | 2019-07-21 | 2019-07-24 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 220003683 | 10678882 | 220000972 | IDH2 | 42 | 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 | 2018-03-08 | 1)authoriseddate | 2018-03-17 | 2018-03-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 220003684 | 11744473 | 220000974 | IDH1 | 41 | 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 | 2018-02-08 | 3)receiveddate | 2018-02-11 | 2018-02-08 | null | 0 | null | Real-Time / Quantitative PCR (qPCR) | Cambridge (molecular lab) |
| 220003685 | 10662212 | 220000975 | IDH2 | 42 | 1 | 1 | 1 | a:abnormal | a:abnormal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 1 | c.515G>A | c.515G>A | 2018-09-23 | 1)authoriseddate | 2018-09-24 | 2018-09-23 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 220003686 | 11928565 | 220000976 | IDH2 | 42 | 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.395G>A | c.395G>A | 2018-06-15 | 3)receiveddate | 2018-07-09 | 2018-06-15 | p.R132H | 1 | p.R132H | Real-Time / Quantitative PCR (qPCR) | Birmingham (molecular lab) |
| 220003688 | 10868310 | 220000978 | IDH1 | 41 | 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 | 2016-09-19 | 2)requesteddate | 2016-10-16 | 2016-09-19 | null | 0 | null | Immunochemistry,Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 220003690 | 11679962 | 220000980 | IDH1 | 41 | 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.395G>A | c.395G>A | 2017-09-16 | 3)receiveddate | 2017-09-03 | 2017-09-16 | p.(Arg132His) | 1 | p.(Arg132His) | Real-Time / Quantitative PCR (qPCR) | Cambridge (molecular lab) |
| 220003691 | 11145494 | 220000981 | IDH2 | 42 | 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.395G>A | c.395G>A | 2017-03-19 | 3)receiveddate | 2017-02-27 | 2017-03-19 | p.(Arg132His) | 1 | p.(Arg132His) | Real-Time / Quantitative PCR (qPCR) | Birmingham (molecular lab) |
| 220003692 | 10210914 | 220000982 | IDH2 | 42 | 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.395G>A | c.395G>A | 2016-05-24 | 1)authoriseddate | 2016-05-05 | 2016-05-24 | p.(Arg132His) | 1 | p.(Arg132His) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 220003693 | 11964809 | 220000984 | IDH2 | 42 | 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.394C>T | c.394C>T | 2017-07-14 | 1)authoriseddate | 2017-07-05 | 2017-07-14 | p.(Arg172Thr) | 1 | p.(Arg172Thr) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 220003694 | 11221089 | 220000985 | IDH2 | 42 | 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 | 2017-10-04 | 1)authoriseddate | 2017-09-20 | 2017-10-04 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220003695 | 10992651 | 220000986 | IDH2 | 42 | 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 | 2018-12-13 | 1)authoriseddate | 2018-12-14 | 2018-12-13 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220003696 | 10187021 | 220000987 | IDH2 | 42 | 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 | 2019-04-05 | 3)receiveddate | 2019-03-30 | 2019-04-05 | null | 0 | null | Real-Time / Quantitative PCR (qPCR) | Birmingham (molecular lab) |
| 220003697 | 10395243 | 220000988 | IDH2 | 42 | 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 | 2019-04-15 | 1)authoriseddate | 2019-05-06 | 2019-04-15 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 220003698 | 11071416 | 220000989 | IDH2 | 42 | 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 | 2018-10-12 | 3)receiveddate | 2018-10-27 | 2018-11-09 | null | 0 | null | Real-Time / Quantitative PCR (qPCR) | Manchester (molecular lab) |
| 220003699 | 11107198 | 220000990 | IDH2 | 42 | 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 | 2016-01-29 | 1)authoriseddate | 2016-02-04 | 2016-01-29 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 220003700 | 10551331 | 220000991 | IDH1 | 41 | 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 | 2019-02-21 | 1)authoriseddate | 2019-03-05 | 2019-02-21 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 220003701 | 11534904 | 220000992 | IDH2 | 42 | 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 | 3)receiveddate | 2018-11-18 | 2018-11-30 | null | 0 | null | Real-Time / Quantitative PCR (qPCR) | Manchester (molecular lab) |
| 220003702 | 10825638 | 220000993 | IDH1 | 41 | 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 | 2017-02-14 | 1)authoriseddate | 2017-02-09 | 2017-02-14 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 220003703 | 11869549 | 220000994 | IDH2 | 42 | 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 | 2019-08-06 | 1)authoriseddate | 2019-09-04 | 2019-08-06 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220003704 | 11174419 | 220000995 | IDH1 | 41 | 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 | 2)requesteddate | 2018-12-08 | 2018-11-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 220003705 | 10504525 | 220000996 | IDH1 | 41 | 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 | 2019-08-23 | 1)authoriseddate | 2019-09-20 | 2019-08-23 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 220003706 | 11939632 | 220000997 | IDH1 | 41 | 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.395G>A | c.395G>A | 2019-12-04 | 1)authoriseddate | 2019-12-06 | 2019-12-04 | p.(Arg132His) | 1 | p.(Arg132His) | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |