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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130027729 | 10225555 | 130027729 | 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 | 2016-12-10 | 1)authoriseddate | 2016-12-10 | 2016-12-10 | p.(Tyr236Asn) | 1 | p.(Tyr236Asn) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130027730 | 11035242 | 130027730 | 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 | 2017-05-11 | 1)authoriseddate | 2017-05-10 | 2017-05-11 | p.(Phe113Ser) | 1 | p.(Phe113Ser) | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130027732 | 10878620 | 130027732 | 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 | 2019-11-23 | 1)authoriseddate | 2019-11-18 | 2019-11-23 | null | 0 | null | Sequencing, Dideoxy/Sanger | Leeds (molecular lab) |
| 130027733 | 10811777 | 130027733 | 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 | 2019-04-29 | 3)receiveddate | 2019-04-26 | 2019-04-29 | null | 0 | null | Sequencing, Dideoxy/Sanger | Bristol (molecular lab) |
| 130027734 | 11542059 | 130027734 | 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 | 2018-12-14 | null | null | null | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130027735 | 11402881 | 130027735 | 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 | 2017-06-25 | 3)receiveddate | 2017-05-17 | 2017-06-25 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130027736 | 10063283 | 130027736 | ERBB2 (HER2 / NEU) | 26 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_copy_no | n:not_applicable_null | null | 0 | null | null | 2019-08-25 | 3)receiveddate | null | null | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130027737 | 10137384 | 130027737 | ERBB2 (HER2 / NEU) | 26 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | cb:borderline_a_over_exp | b:normal_copy_no | n:not_applicable_null | null | 0 | null | null | 2018-11-19 | 3)receiveddate | 2018-11-07 | 2018-11-19 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130027738 | 11298941 | 130027738 | 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 | 2016-11-09 | 1)authoriseddate | 2016-11-18 | 2016-11-09 | null | 0 | null | FISH - Specific Probe | Birmingham (molecular lab) |
| 130027739 | 10976208 | 130027739 | ERBB2 (HER2 / NEU) | 26 | 2 | 2 | 1 | a:abnormal,c:borderline | a:abnormal | 1 | n:not_applicable_null | n:not_applicable_null | ab:abnormal_over_exp | n:not_applicable_null | n:not_applicable_null | over_exp | 0 | null | null | 2016-06-21 | null | null | 2016-06-21 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130027740 | 10743475 | 130027740 | 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.2527_2538del12 | c.2527_2538del12 | 2019-04-24 | 3)receiveddate | 2019-04-24 | 2019-04-24 | p.(Gln136AsnfsTer34) | 1 | p.(Gln136AsnfsTer34) | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130027741 | 11847737 | 130027741 | 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 | 2017-12-07 | 3)receiveddate | null | 2017-12-07 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130027742 | 11256277 | 130027742 | 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 | 2018-08-06 | 3)receiveddate | 2018-07-18 | 2018-08-06 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130027743 | 11483430 | 130027743 | 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 | 2019-11-05 | null | null | 2019-11-05 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130027745 | 11729982 | 130027745 | TP53 | 79 | 1 | 1 | 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.586delC | c.586delC | 2017-12-16 | 1)authoriseddate | 2017-12-27 | null | p.(Cys135Tyr) | 1 | p.(Cys135Tyr) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130027746 | 11409693 | 130027746 | ERBB2 (HER2 / NEU) | 26 | 1 | 2 | 1 | b:normal,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 | 2019-07-27 | 1)authoriseddate | 2019-08-24 | 2019-07-27 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130027747 | 11527672 | 130027747 | ERBB2 (HER2 / NEU) | 26 | 1 | 2 | 1 | b:normal,c:borderline | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | cb:borderline_a_over_exp | b:normal_copy_no | n:not_applicable_null | null | 0 | null | null | 2018-11-04 | 1)authoriseddate | 2018-11-16 | 2018-11-04 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130027748 | 10648711 | 130027748 | 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 | 2019-08-24 | 1)authoriseddate | null | 2019-08-24 | null | 0 | null | FISH - Specific Probe | Birmingham (molecular lab) |
| 130027749 | 10281265 | 130027749 | 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 | 2018-02-03 | null | 2018-02-27 | 2018-02-03 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130027750 | 11079211 | 130027750 | ERBB2 (HER2 / NEU) | 26 | 1 | 2 | 1 | b:normal,c:borderline | 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 | 2018-07-28 | null | null | 2018-07-28 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130027752 | 10471331 | 130027752 | 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 | 2016-05-27 | 1)authoriseddate | 2016-05-26 | 2016-05-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130027753 | 10230894 | 130027753 | 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.524G>A | c.524G>A | 2017-04-18 | null | null | 2017-04-18 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130027755 | 10378990 | 130027755 | ERBB2 (HER2 / NEU) | 26 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | cb:borderline_a_over_exp | b:normal_copy_no | n:not_applicable_null | null | 0 | null | null | 2017-03-27 | 1)authoriseddate | 2017-04-14 | 2017-03-27 | null | 0 | null | FISH - Specific Probe | Birmingham (molecular lab) |
| 130027758 | 10225660 | 130027758 | 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.916C>T | c.916C>T | 2016-06-13 | 3)receiveddate | 2016-06-11 | 2016-06-13 | p.(Pro278Ser) | 1 | p.(Pro278Ser) | Immunochemistry | Birmingham (molecular lab) |
| 130027759 | 10018719 | 130027759 | 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.527G>T | c.527G>T | 2018-03-12 | 3)receiveddate | 2018-03-13 | 2018-03-12 | p.(His179Tyr) | 1 | p.(His179Tyr) | Immunochemistry | Birmingham (molecular lab) |
| 130027760 | 11429624 | 130027760 | ERBB2 (HER2 / NEU) | 26 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | n:not_applicable_null | n:not_applicable_null | ab:abnormal_over_exp | n:not_applicable_null | n:not_applicable_null | over_exp | 0 | null | null | 2019-12-18 | null | null | 2019-12-18 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130027761 | 11659534 | 130027761 | 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 | 2016-02-24 | null | null | 2016-02-24 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130027763 | 10426647 | 130027763 | 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 | 2018-03-23 | 1)authoriseddate | 2018-04-05 | null | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130027764 | 10680242 | 130027764 | ERBB2 (HER2 / NEU) | 26 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | n:not_applicable_null | n:not_applicable_null | ab:abnormal_over_exp | n:not_applicable_null | n:not_applicable_null | over_exp | 0 | null | null | 2019-02-26 | 3)receiveddate | 2019-02-22 | 2019-02-26 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130027765 | 10990889 | 130027765 | 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 | 2017-10-29 | 2017-10-29 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130027766 | 11839074 | 130027766 | 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 | 2016-11-26 | 3)receiveddate | 2016-11-27 | 2016-11-26 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130027767 | 11684746 | 130027767 | 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.2527_2538del12 | c.2527_2538del12 | 2017-11-20 | 2)requesteddate | null | null | p.(Arg273His) | 1 | p.(Arg273His) | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130027768 | 10656264 | 130027768 | 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.376T>C | c.376T>C | 2019-03-09 | 3)receiveddate | 2019-03-09 | null | p.(Tyr234Asn) | 1 | p.(Tyr234Asn) | Immunochemistry | Birmingham (molecular lab) |
| 130027770 | 10022393 | 130027770 | 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 | 2018-08-05 | null | null | 2018-08-05 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130027771 | 10127455 | 130027771 | 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 | 2017-03-22 | null | null | 2017-03-22 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130027774 | 10074515 | 130027774 | 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.808T>C | c.808T>C | 2016-11-02 | 3)receiveddate | null | 2016-11-02 | p.(Gly245Asp) | 1 | p.(Gly245Asp) | Immunochemistry | Birmingham (molecular lab) |
| 130027775 | 11238022 | 130027775 | 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 | 2018-08-16 | 1)authoriseddate | 2018-08-20 | 2018-08-16 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130027778 | 10960227 | 130027778 | 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 | 2019-10-10 | 1)authoriseddate | 2017-07-29 | 2019-10-10 | null | 0 | null | SSCP | Royal Marsden (molecular lab) |
| 130027779 | 10580095 | 130027779 | 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 | 2017-11-20 | 3)receiveddate | 2017-04-12 | 2017-11-20 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130027780 | 10173703 | 130027780 | TP53 | 79 | 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 | 2018-06-16 | 1)authoriseddate | 2018-07-14 | 2018-06-16 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130027781 | 11428015 | 130027781 | 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 | 2019-07-03 | 3)receiveddate | 2019-07-10 | null | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130027782 | 10965593 | 130027782 | 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 | 2019-06-27 | 3)receiveddate | 2019-06-22 | null | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130027784 | 10870488 | 130027784 | 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.1977C>G | c.1977C>G | 2019-07-27 | 1)authoriseddate | 2019-08-06 | 2019-07-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130027785 | 11417248 | 130027785 | ERBB2 (HER2 / NEU) | 26 | 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 | 2019-08-26 | 1)authoriseddate | 2019-09-03 | 2019-08-26 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130027786 | 10103467 | 130027786 | 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 | 2019-04-11 | 3)receiveddate | 2019-04-02 | 2019-04-11 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130027787 | 10101880 | 130027787 | 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 | 2019-03-01 | 1)authoriseddate | 2019-03-20 | null | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130027788 | 11398098 | 130027788 | 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 | 2 | c.2525A>T,c.2525A>T | multiple | 2019-10-17 | 3)receiveddate | 2019-06-13 | 2019-10-17 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130027789 | 10749241 | 130027789 | TP53 | 79 | 1 | 3 | 1 | a:abnormal,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.455C>T | c.455C>T | 2017-12-05 | null | 2017-09-07 | 2017-12-05 | p.(Arg158Pro) | 1 | p.(Arg158Pro) | Immunochemistry | Birmingham (molecular lab) |
| 130027790 | 10347180 | 130027790 | 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>Tp.(Asp842Val) | c.2525A>Tp.(Asp842Val) | 2018-03-20 | 1)authoriseddate | 2018-04-06 | 2018-03-20 | p.(Arg337Cys) | 1 | p.(Arg337Cys) | Mass Spectrometry Genotyping / MALDI-TOF | Leeds (molecular lab) |
| 130027791 | 11391028 | 130027791 | 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 | 2018-04-18 | null | null | null | p.(Arg175His) | 1 | p.(Arg175His) | Immunochemistry | Birmingham (molecular lab) |