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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130025917 | 11419364 | 130025917 | TP53 | 79 | 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 | 2017-12-25 | 3)receiveddate | null | null | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130025918 | 11143910 | 130025918 | TP53 | 79 | 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 | 2018-09-18 | 2018-10-09 | null | 0 | null | Immunochemistry | 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) |
| 130025920 | 11304867 | 130025920 | TP53 | 79 | 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.636del | c.636del | 2019-10-18 | 1)authoriseddate | 2019-10-12 | 2019-10-18 | p.(Cys242Tyr) | 1 | p.(Cys242Tyr) | Sequencing, Next Generation (NGS) | Royal Marsden (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) |
| 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) |
| 130025923 | 10419852 | 130025923 | TP53 | 79 | 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 | 2016-04-29 | null | 2016-05-23 | 2016-04-29 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130025924 | 11283737 | 130025924 | ERBB2 (HER2 / NEU) | 26 | 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 | 2018-07-15 | 1)authoriseddate | 2018-08-06 | 2018-07-15 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130025925 | 10836801 | 130025925 | 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 | 2016-08-22 | 1)authoriseddate | 2016-09-01 | null | null | 0 | null | Multiple methods | Royal Marsden (molecular lab) |
| 130025927 | 11645487 | 130025927 | ERBB2 (HER2 / NEU) | 26 | 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 | 2019-07-31 | 1)authoriseddate | 2019-08-03 | 2019-07-31 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130025929 | 10686471 | 130025929 | TP53 | 79 | 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.535C>T | c.535C>T | 2017-05-31 | null | null | 2017-05-31 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130025930 | 11862367 | 130025930 | TP53 | 79 | 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.399delG | c.399delG | 2017-04-29 | 3)receiveddate | 2017-04-29 | 2017-04-29 | p.(Val561Asp) | 1 | p.(Val561Asp) | Immunochemistry | Birmingham (molecular lab) |
| 130025931 | 11287105 | 130025931 | ERBB2 (HER2 / NEU) | 26 | 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 | 2019-06-15 | 3)receiveddate | 2019-06-07 | 2019-06-15 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130025932 | 11027177 | 130025932 | ERBB2 (HER2 / NEU) | 26 | 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 | 2019-09-27 | 3)receiveddate | 2019-10-23 | null | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130025933 | 10047292 | 130025933 | TP53 | 79 | 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 | 2017-10-29 | 1)authoriseddate | 2017-10-09 | 2017-10-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130025934 | 10840766 | 130025934 | TP53 | 79 | 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.817C>T | c.817C>T | 2018-06-14 | 1)authoriseddate | 2018-06-12 | 2018-06-14 | p.(Ile50Ter) | 1 | p.(Ile50Ter) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130025935 | 10117221 | 130025935 | TP53 | 79 | 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.764dupT,c.902dupC | multiple | 2017-03-31 | 1)authoriseddate | 2017-04-01 | 2017-03-31 | p.(Cys242Gly) | 1 | p.(Cys242Gly) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130025937 | 11277568 | 130025937 | ERBB2 (HER2 / NEU) | 26 | 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 | 2019-11-17 | 3)receiveddate | 2019-11-20 | 2019-11-17 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130025938 | 11806165 | 130025938 | ERBB2 (HER2 / NEU) | 26 | 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 | 2019-07-29 | 1)authoriseddate | 2019-07-11 | null | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130025940 | 11857729 | 130025940 | ERBB2 (HER2 / NEU) | 26 | 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 | 2017-02-24 | 3)receiveddate | 2017-02-26 | 2017-02-24 | null | 0 | null | Immunochemistry | 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) |
| 130025944 | 11324689 | 130025944 | 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 | 2018-04-13 | 1)authoriseddate | 2018-04-14 | 2018-04-13 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130025945 | 11383416 | 130025945 | TP53 | 79 | 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.743G>A | c.743G>A | 2017-05-03 | null | 2017-06-01 | null | p.(Gly266Arg) | 1 | p.(Gly266Arg) | Immunochemistry | Birmingham (molecular lab) |
| 130025946 | 10366038 | 130025946 | ERBB2 (HER2 / NEU) | 26 | 1 | 1 | 1 | a:abnormal | a:abnormal | 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 | 2019-02-16 | 3)receiveddate | 2019-02-09 | 2019-02-16 | null | 0 | null | FISH - Specific Probe | Birmingham (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) |
| 130025948 | 10683774 | 130025948 | TP53 | 79 | 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.376-2A>G | c.376-2A>G | 2018-09-24 | 1)authoriseddate | 2018-09-25 | 2018-09-24 | p.Val272Met | 1 | p.Val272Met | Sequencing, Next Generation (NGS) | Royal Marsden (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) |
| 130025951 | 11629044 | 130025951 | TP53 | 79 | 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.742C>T | c.742C>T | 2019-12-03 | 3)receiveddate | 2019-10-25 | 2019-12-03 | p.(Val272Met) | 1 | p.(Val272Met) | Immunochemistry | Birmingham (molecular lab) |
| 130025952 | 10567521 | 130025952 | ERBB2 (HER2 / NEU) | 26 | 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 | 2019-08-29 | 1)authoriseddate | 2019-09-27 | 2019-08-29 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130025953 | 11817261 | 130025953 | ERBB2 (HER2 / NEU) | 26 | 1 | 1 | 1 | a:abnormal | a:abnormal | 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 | 2018-11-14 | 1)authoriseddate | null | 2018-11-14 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130025955 | 10868708 | 130025955 | ERBB2 (HER2 / NEU) | 26 | 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 | null | null | 2019-01-28 | null | 0 | null | FISH - Specific Probe | 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) |
| 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) |
| 130025959 | 10460790 | 130025959 | 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 | 2019-08-21 | null | 2019-06-07 | 2019-08-21 | null | 0 | null | Unknown | Birmingham (molecular lab) |
| 130025960 | 10945197 | 130025960 | TP53 | 79 | 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 | 2018-08-14 | 1)authoriseddate | 2018-08-27 | null | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130025961 | 10851470 | 130025961 | ERBB2 (HER2 / NEU) | 26 | 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 | 2017-05-05 | null | null | null | p.(Arg248Gln),p.(Gly199Val) | 2 | multiple | FISH - Specific Probe,Immunochemistry | Birmingham (molecular lab) |
| 130025962 | 11352079 | 130025962 | ERBB2 (HER2 / NEU) | 26 | 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 | 2019-05-14 | 3)receiveddate | 2019-05-20 | 2019-05-14 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130025963 | 10483407 | 130025963 | 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 | 2019-05-10 | 1)authoriseddate | 2019-05-11 | 2019-05-10 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130025966 | 10529353 | 130025966 | ERBB2 (HER2 / NEU) | 26 | 1 | 1 | 1 | a:abnormal | a:abnormal | 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 | 2016-04-21 | 1)authoriseddate | 2016-04-21 | null | null | 0 | null | Immunochemistry | 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) |
| 130025968 | 10569665 | 130025968 | ERBB2 (HER2 / NEU) | 26 | 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 | 2019-12-04 | 2)requesteddate | null | 2019-12-04 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130025969 | 11135601 | 130025969 | TP53 | 79 | 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 | 2019-07-07 | 1)authoriseddate | 2019-07-10 | 2019-07-07 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130025970 | 10376976 | 130025970 | TP53 | 79 | 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 | 2017-11-11 | null | null | 2017-11-11 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130025971 | 11757633 | 130025971 | TP53 | 79 | 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.657_658insA | c.657_658insA | 2017-02-04 | 1)authoriseddate | 2017-01-31 | null | p.(Asp842Val) | 1 | p.(Asp842Val) | Sequencing, Next Generation (NGS) | Royal Marsden (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) |
| 130025973 | 10927060 | 130025973 | TP53 | 79 | 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.524G>A,c.818G>A | multiple | 2019-07-11 | 1)authoriseddate | 2019-06-27 | null | p.(Pro151Ser) | 1 | p.(Pro151Ser) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130025974 | 10245945 | 130025974 | TP53 | 79 | 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 | 2019-09-09 | 2019-09-11 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130025975 | 11276820 | 130025975 | TP53 | 79 | 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 | 2018-07-15 | 3)receiveddate | 2018-07-19 | 2018-07-15 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130025976 | 10044503 | 130025976 | ERBB2 (HER2 / NEU) | 26 | 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 | 2018-12-16 | 1)authoriseddate | 2018-12-07 | 2018-12-16 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130025977 | 11093312 | 130025977 | ERBB2 (HER2 / NEU) | 26 | 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 | 2019-06-05 | 3)receiveddate | 2019-05-20 | 2019-06-05 | p.(Arg213Ter) | 1 | p.(Arg213Ter) | FISH - Specific Probe | Birmingham (molecular lab) |