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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130151598 | 10935664 | 130004544 | 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 | 2018-11-18 | 1)authoriseddate | 2018-12-08 | 2018-11-18 | p.Gly12Val | 1 | p.Gly12Val | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130151599 | 11785882 | 130004545 | 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 | 2016-08-09 | 2)requesteddate | 2016-09-07 | 2016-08-09 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130151600 | 10041584 | 130004546 | 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 | 2018-06-19 | 3)receiveddate | 2018-07-16 | 2018-06-19 | null | 0 | null | Pyrosequencing | Cambridge (molecular lab) |
| 130151601 | 10058059 | 130004547 | 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 | 2019-08-12 | 1)authoriseddate | 2019-09-10 | 2019-08-12 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130151602 | 10777873 | 130004548 | 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 | 2019-12-28 | 1)authoriseddate | 2019-07-27 | 2019-12-28 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130151603 | 10597783 | 130004553 | 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 | 2017-09-09 | 1)authoriseddate | 2017-09-23 | 2017-09-09 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130151604 | 10050601 | 130004556 | 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 | 2016-10-19 | 1)authoriseddate | 2016-11-16 | 2016-10-19 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130151605 | 10495621 | 130004561 | 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 | 2019-02-16 | 1)authoriseddate | 2019-03-16 | 2019-02-16 | p.G12V | 1 | p.G12V | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130151606 | 11383921 | 130004564 | 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 | 2019-10-14 | 2019-10-03 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130151607 | 11322116 | 130004568 | 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 | 2019-06-24 | 1)authoriseddate | 2019-07-21 | 2019-06-24 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130151608 | 10560409 | 130004569 | KRAS | 47 | 2 | 2 | 2 | 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 | 2019-08-07 | 1)authoriseddate | 2019-09-06 | 2019-08-07 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130151609 | 10284831 | 130004571 | 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 | 2019-10-07 | 1)authoriseddate | 2019-11-05 | 2019-10-07 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 130151610 | 11500990 | 130004572 | 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 | 2018-11-02 | 1)authoriseddate | 2018-12-02 | 2018-11-02 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130151611 | 10900524 | 130004574 | 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 | 2016-04-18 | 1)authoriseddate | 2016-05-18 | 2016-05-19 | p.(Gly13Asp),p.(Gly13Asp) | 1 | p.(Gly13Asp),p.(Gly13Asp) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130151612 | 10395811 | 130004575 | 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 | 2017-05-26 | 1)authoriseddate | 2017-06-22 | 2017-05-26 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130151613 | 10281826 | 130004577 | 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 | 2019-04-09 | 1)authoriseddate | 2019-05-08 | 2019-04-09 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130151615 | 10687868 | 130004579 | 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 | 2019-09-11 | 1)authoriseddate | 2019-09-03 | 2019-09-11 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130151616 | 11681099 | 130004582 | 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 | 2019-08-10 | 1)authoriseddate | 2019-08-17 | 2019-08-10 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130151617 | 10597739 | 130004583 | 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 | 2019-07-19 | 1)authoriseddate | 2019-07-17 | 2019-07-19 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130151619 | 11801056 | 130004586 | 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 | 2019-11-19 | 1)authoriseddate | 2019-12-18 | 2019-11-19 | p.Gly12Cys | 1 | p.Gly12Cys | Pyrosequencing | Manchester (molecular lab) |
| 130151620 | 11857507 | 130004587 | 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 | 2017-12-10 | 1)authoriseddate | 2018-01-07 | 2017-12-10 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130151621 | 10190017 | 130004593 | 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 | 2016-12-09 | 1)authoriseddate | 2017-01-07 | 2016-12-09 | null | 0 | null | Pyrosequencing | Newcastle (molecular lab) |
| 130151622 | 11207976 | 130004596 | 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 | 2018-03-11 | 1)authoriseddate | 2018-04-08 | 2018-03-11 | p.(Gly12Val) | 1 | p.(Gly12Val) | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 130151623 | 11702760 | 130004599 | 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 | 2019-01-31 | 3)receiveddate | 2019-03-01 | 2019-01-31 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130151624 | 11853867 | 130004600 | 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 | 2019-10-07 | 1)authoriseddate | 2019-11-05 | 2019-10-07 | p.Gly12Val | 1 | p.Gly12Val | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 130151625 | 11372454 | 130004604 | 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 | 2019-07-24 | 1)authoriseddate | 2019-08-20 | 2019-07-24 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130151626 | 11127861 | 130004610 | 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 | 2019-06-26 | 1)authoriseddate | 2019-06-19 | 2019-06-26 | null | 0 | null | Pyrosequencing | Newcastle (molecular lab) |
| 130151627 | 11346257 | 130004613 | 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 | 2018-10-15 | 3)receiveddate | 2018-10-31 | 2018-10-15 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130151628 | 11284084 | 130004614 | 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 | 2018-05-29 | 1)authoriseddate | 2018-06-16 | 2018-05-29 | null | 0 | null | Pyrosequencing | Leeds (molecular lab) |
| 130151629 | 10988509 | 130004616 | 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 | 2018-05-15 | 1)authoriseddate | 2018-06-12 | 2018-05-15 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130151630 | 10343016 | 130004619 | 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>C | c.35G>C | 2018-01-22 | 1)authoriseddate | 2018-02-19 | 2018-01-22 | p.(Gly12Ala) | 1 | p.(Gly12Ala) | Pyrosequencing | Birmingham (molecular lab) |
| 130151631 | 11519952 | 130004620 | 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 | 2019-01-27 | 1)authoriseddate | 2019-02-26 | 2019-01-27 | null | 0 | null | Pyrosequencing | Bristol (molecular lab) |
| 130151632 | 10376007 | 130004622 | KRAS | 47 | 1 | 2 | 1 | e:failed,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 | 2019-02-09 | 3)receiveddate | 2019-03-09 | 2019-02-09 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Cambridge (molecular lab) |
| 130151633 | 10965013 | 130004628 | 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 | 2018-07-26 | 1)authoriseddate | 2018-08-25 | 2018-07-26 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130151634 | 10613953 | 130004631 | 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 | 2018-03-29 | 1)authoriseddate | 2018-04-23 | 2018-03-29 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130151635 | 10269585 | 130004638 | KRAS | 47 | 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 | 2018-03-18 | 1)authoriseddate | 2018-04-16 | 2018-03-18 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130151636 | 10703729 | 130004642 | 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 | 2019-09-26 | 2019-08-31 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130151637 | 10809305 | 130004646 | 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 | 2018-07-10 | 3)receiveddate | 2018-06-04 | 2018-07-10 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130151638 | 10952486 | 130004648 | 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 | 2019-12-22 | 3)receiveddate | 2019-11-23 | 2019-12-22 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130151639 | 10070667 | 130004649 | 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 | 2018-06-28 | 3)receiveddate | 2018-07-27 | 2018-06-28 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130151640 | 11797037 | 130004650 | 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 | 2019-04-06 | 1)authoriseddate | 2019-05-03 | 2019-04-06 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130151641 | 11130365 | 130004651 | 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 | 2019-12-17 | 1)authoriseddate | 2019-12-27 | 2019-12-17 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130151642 | 11965247 | 130004654 | KRAS | 47 | 4 | 4 | 1 | g:unknown/null,g:unknown/null,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 | 2019-12-14 | 1)authoriseddate | 2020-01-11 | 2019-12-14 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130151643 | 10091614 | 130004661 | 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 | 2018-05-09 | 3)receiveddate | 2018-06-06 | 2018-05-09 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130151644 | 10796398 | 130004662 | 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 | 2019-06-06 | 3)receiveddate | 2019-07-04 | 2019-06-06 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130151645 | 11119381 | 130004664 | 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 | 2017-08-13 | 1)authoriseddate | 2017-09-10 | 2017-08-13 | null | 0 | null | Pyrosequencing | Leeds (molecular lab) |
| 130151646 | 10108311 | 130004665 | 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 | 2017-12-27 | 1)authoriseddate | 2018-01-16 | 2017-12-27 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130151647 | 10398407 | 130004666 | KRAS | 47 | 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 | 2018-05-22 | 1)authoriseddate | 2018-06-20 | 2018-05-22 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130151648 | 10102968 | 130004667 | 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 | 2018-10-27 | 3)receiveddate | 2018-10-11 | 2018-10-27 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130151649 | 10166026 | 130004669 | 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 | 2019-06-29 | 1)authoriseddate | 2019-07-05 | 2019-06-29 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |