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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130026087 | 11830396 | 130026087 | PDGFRA | 59 | 1 | 1 | 1 | f:not_tested | f:not_tested | 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 | 2018-01-04 | null | null | 2018-01-04 | p.(Pro190Thr) | 1 | p.(Pro190Thr) | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130026084 | 10015018 | 130026084 | PDGFRA | 59 | 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.2525A>T | c.2525A>T | 2018-11-25 | 3)receiveddate | 2018-11-26 | 2018-11-25 | p.(Pro278Ser) | 1 | p.(Pro278Ser) | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130026075 | 11655069 | 130026075 | PDGFRA | 59 | 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 | 2018-11-05 | 1)authoriseddate | 2018-11-09 | 2018-11-05 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130026073 | 10439303 | 130026073 | PDGFRA | 59 | 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 | 2017-04-03 | null | null | null | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130026043 | 11309268 | 130026043 | PDGFRA | 59 | 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 | 2019-05-11 | 1)authoriseddate | 2019-05-08 | 2019-05-11 | p.(Pro190Thr) | 1 | p.(Pro190Thr) | Sequencing, Dideoxy/Sanger | Leeds (molecular lab) |
| 130026040 | 10368823 | 130026040 | PDGFRA | 59 | 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 | 2018-11-15 | null | null | null | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130026019 | 10616548 | 130026019 | PDGFRA | 59 | 1 | 3 | 1 | g:unknown/null,g:unknown/null,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 | 2016-06-22 | 3)receiveddate | 2016-06-25 | 2016-06-22 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130026015 | 11422024 | 130026015 | PDGFRA | 59 | 1 | 2 | 1 | c:borderline,e:failed | c:borderline | 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 | 2016-03-19 | 1)authoriseddate | 2016-03-29 | 2016-03-19 | p.(Arg248Trp) | 1 | p.(Arg248Trp) | Sequencing, Dideoxy/Sanger | Leeds (molecular lab) |
| 130026004 | 11663865 | 130026004 | PDGFRA | 59 | 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 | 2019-03-24 | 1)authoriseddate | 2019-03-13 | 2019-08-06 | null | 0 | null | Sequencing, Dideoxy/Sanger | Newcastle (molecular lab) |
| 130025998 | 10158729 | 130025998 | PDGFRA | 59 | 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 | 2019-02-26 | 1)authoriseddate | 2019-03-15 | 2019-02-26 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130107694 | 10067643 | 130020087 | 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 | 2019-01-24 | 1)authoriseddate | 2019-02-21 | 2019-01-24 | null | 0 | null | Sequencing, Dideoxy/Sanger | Exeter (molecular lab) |
| 130025992 | 11653423 | 130025992 | PDGFRA | 59 | 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 | 2017-04-08 | null | 2016-11-09 | 2017-04-08 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025990 | 11258985 | 130025990 | PDGFRA | 59 | 1 | 2 | 1 | b:normal,e:failed | 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 | 2019-01-10 | null | null | 2019-01-10 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025983 | 11963382 | 130025983 | PDGFRA | 59 | 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 | 2016-08-01 | 3)receiveddate | 2016-08-24 | 2016-08-29 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025981 | 11334798 | 130025981 | PDGFRA | 59 | 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 | 2019-05-01 | 3)receiveddate | 2019-04-29 | 2019-05-01 | null | 0 | null | Sequencing, Dideoxy/Sanger | Bristol (molecular lab) |
| 130025972 | 11287999 | 130025972 | PDGFRA | 59 | 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.2525A>T | c.2525A>T | 2017-07-30 | 1)authoriseddate | null | 2017-08-08 | p.(Tyr126His) | 1 | p.(Tyr126His) | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025967 | 11623971 | 130025967 | PDGFRA | 59 | 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 | 2017-05-23 | 1)authoriseddate | null | 2017-05-23 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025957 | 10593188 | 130025957 | PDGFRA | 59 | 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 | 2017-09-04 | 1)authoriseddate | 2017-09-01 | 2017-09-04 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130088401 | 10374882 | 130005953 | PDGFRA | 59 | 1 | 1 | 1 | null | g:unknown/null | 1 | n:not_applicable_null | n:not_applicable_null | cb:borderline_a_over_exp | ab:abnormal_copy_no_gain | n:not_applicable_null | copy_no_gain | 0 | null | null | 2019-03-08 | 1)authoriseddate | 2018-12-02 | 2019-03-10 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025956 | 10519029 | 130025956 | PDGFRA | 59 | 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.2525A>T | c.2525A>T | 2019-01-27 | null | 2018-12-22 | null | p.(Val122AspfsTer26) | 1 | p.(Val122AspfsTer26) | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025949 | 10969103 | 130025949 | PDGFRA | 59 | 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 | 2018-04-12 | 1)authoriseddate | 2018-03-16 | 2018-04-12 | null | 0 | null | Sequencing, Dideoxy/Sanger | Leeds (molecular lab) |
| 130025947 | 10778364 | 130025947 | PDGFRA | 59 | 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 | 2017-04-24 | null | 2017-02-02 | null | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025943 | 10364387 | 130025943 | PDGFRA | 59 | 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 | 2018-12-03 | 1)authoriseddate | 2018-11-28 | 2018-12-03 | null | 0 | null | Sequencing, Dideoxy/Sanger | Newcastle (molecular lab) |
| 130025922 | 11879105 | 130025922 | PDGFRA | 59 | 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 | 2019-01-27 | 3)receiveddate | 2019-01-27 | 2019-01-27 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025921 | 10061244 | 130025921 | PDGFRA | 59 | 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 | 2018-06-24 | 3)receiveddate | 2018-06-23 | 2018-06-24 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025919 | 11198827 | 130025919 | PDGFRA | 59 | 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 | 2019-11-12 | 1)authoriseddate | 2019-11-29 | 2019-11-12 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025913 | 11546749 | 130025913 | PDGFRA | 59 | 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 | 2017-01-03 | null | null | 2017-01-03 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025912 | 11140113 | 130025912 | PDGFRA | 59 | 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.1682T>A | c.1682T>A | 2019-10-28 | 1)authoriseddate | 2019-11-05 | null | p.(Val561Asp) | 1 | p.(Val561Asp) | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025907 | 11870725 | 130025907 | PDGFRA | 59 | 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 | 2017-10-07 | 1)authoriseddate | 2017-10-10 | null | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025883 | 10236269 | 130025883 | PDGFRA | 59 | 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 | 2019-12-13 | 1)authoriseddate | 2019-12-13 | 2019-12-13 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025881 | 11432487 | 130025881 | PDGFRA | 59 | 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 | 2019-04-11 | 1)authoriseddate | 2019-04-24 | 2019-09-03 | null | 0 | null | Sequencing, Dideoxy/Sanger | Leeds (molecular lab) |
| 130025880 | 11005279 | 130025880 | PDGFRA | 59 | 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 | 2017-06-02 | 1)authoriseddate | 2017-05-30 | 2017-06-02 | p.(Val272Met) | 1 | p.(Val272Met) | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025869 | 10519000 | 130025869 | PDGFRA | 59 | 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 | 2019-05-31 | null | null | 2019-05-31 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025856 | 10892340 | 130025856 | PDGFRA | 59 | 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 | 2018-04-05 | null | null | 2018-04-05 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025843 | 11890946 | 130025843 | PDGFRA | 59 | 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 | 2017-11-22 | 2017-11-18 | null | 0 | null | Sequencing, Dideoxy/Sanger | Bristol (molecular lab) |
| 130025837 | 10654053 | 130025837 | PDGFRA | 59 | 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 | 2017-11-16 | null | 2017-12-02 | 2017-11-16 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025836 | 10565574 | 130025836 | PDGFRA | 59 | 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 | 2019-07-29 | 1)authoriseddate | 2019-08-11 | 2019-07-29 | null | 0 | null | Sequencing, Dideoxy/Sanger | Leeds (molecular lab) |
| 130025835 | 11545458 | 130025835 | PDGFRA | 59 | 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 | 2018-10-04 | 3)receiveddate | 2018-10-05 | 2018-10-04 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025829 | 10601967 | 130025829 | PDGFRA | 59 | 1 | 1 | 1 | f:not_tested | f:not_tested | 0 | n:not_applicable_null | n:not_applicable_null | cb:borderline_a_over_exp | cb:borderline_a_copy_no_gain | n:not_applicable_null | null | 0 | null | null | 2016-12-27 | 1)authoriseddate | 2016-12-28 | 2016-12-27 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025823 | 11127192 | 130025823 | PDGFRA | 59 | 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 | 2019-11-07 | 3)receiveddate | 2019-11-18 | 2019-11-07 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025813 | 10665033 | 130025813 | PDGFRA | 59 | 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 | 2018-01-01 | null | 2018-01-24 | 2018-01-01 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025806 | 11532537 | 130025806 | PDGFRA | 59 | 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 | 2018-10-18 | 3)receiveddate | 2018-10-17 | 2018-10-18 | null | 0 | null | Sequencing, Dideoxy/Sanger | Bristol (molecular lab) |
| 130025799 | 10120268 | 130025799 | PDGFRA | 59 | 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 | 2016-12-13 | 1)authoriseddate | 2016-12-09 | 2016-12-13 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025795 | 10611483 | 130025795 | PDGFRA | 59 | 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.2525A>T | c.2525A>T | 2019-07-20 | 3)receiveddate | 2019-07-21 | 2019-07-20 | p.(Val73Argfs*76) | 1 | p.(Val73Argfs*76) | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130025789 | 10762582 | 130025789 | PDGFRA | 59 | 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 | 2019-08-04 | 1)authoriseddate | 2019-08-09 | null | null | 0 | null | Sequencing, Dideoxy/Sanger | Leeds (molecular lab) |
| 130025774 | 11621034 | 130025774 | PDGFRA | 59 | 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 | 2019-06-04 | 1)authoriseddate | 2019-06-14 | 2019-06-04 | null | 0 | null | Sequencing, Dideoxy/Sanger | Leeds (molecular lab) |
| 130025768 | 11017105 | 130025768 | PDGFRA | 59 | 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 | 2019-09-25 | 1)authoriseddate | 2019-09-23 | 2019-09-25 | null | 0 | null | Sequencing, Dideoxy/Sanger | Leeds (molecular lab) |
| 130025761 | 11663644 | 130025761 | PDGFRA | 59 | 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 | 2018-10-30 | 3)receiveddate | 2018-10-31 | 2018-10-30 | p.(Pro151Ser) | 1 | p.(Pro151Ser) | Sequencing, Dideoxy/Sanger | Bristol (molecular lab) |
| 130025758 | 10873471 | 130025758 | PDGFRA | 59 | 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 | 2017-09-27 | 3)receiveddate | 2017-09-22 | 2017-09-27 | null | 0 | null | Sequencing, Dideoxy/Sanger | Bristol (molecular lab) |
| 130025757 | 11221913 | 130025757 | PDGFRA | 59 | 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 | 2018-02-28 | 3)receiveddate | 2018-03-04 | null | p.(Arg273His) | 1 | p.(Arg273His) | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |