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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130117619 | 10714562 | 130006609 | 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 | 2019-11-30 | 1)authoriseddate | 2019-12-09 | 2019-11-30 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117620 | 11839559 | 130006610 | 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 | 2018-05-11 | 1)authoriseddate | 2018-06-08 | 2018-05-11 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130117621 | 10718462 | 130006611 | 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 | 2019-05-28 | 1)authoriseddate | 2019-06-26 | 2019-05-28 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130117622 | 11318762 | 130006613 | 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 | 2019-12-02 | 3)receiveddate | 2019-11-08 | 2019-12-02 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Birmingham (molecular lab) |
| 130117623 | 10122273 | 130006614 | 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 | 2016-06-18 | 1)authoriseddate | 2016-04-14 | 2016-06-18 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130117624 | 11702969 | 130006615 | 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 | 2019-10-22 | 3)receiveddate | 2019-11-18 | 2019-10-22 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117625 | 10189242 | 130006618 | 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 | 2018-02-28 | 3)receiveddate | 2018-03-29 | 2018-02-28 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117626 | 11219293 | 130006619 | 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.30_35dup | c.30_35dup | 2017-10-05 | 1)authoriseddate | 2017-11-03 | 2017-10-05 | p.(Gly13Arg) | 1 | p.(Gly13Arg) | Pyrosequencing | Birmingham (molecular lab) |
| 130117627 | 10060255 | 130006621 | 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 | 2019-02-12 | 3)receiveddate | 2019-02-25 | 2019-02-12 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117628 | 11571257 | 130006622 | 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 | 2017-02-17 | 1)authoriseddate | 2017-02-14 | 2017-12-28 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130117629 | 11214245 | 130006623 | 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 | 2017-05-23 | 1)authoriseddate | 2017-06-07 | 2017-05-23 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130117630 | 10768602 | 130006624 | 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 | 2016-08-11 | 1)authoriseddate | 2016-09-02 | 2016-08-11 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130117631 | 10231859 | 130006625 | 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 | 2019-08-28 | 1)authoriseddate | 2019-09-27 | 2019-08-28 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117632 | 10225736 | 130006626 | 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 | 2019-08-23 | 1)authoriseddate | 2019-09-11 | 2019-08-23 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 130117633 | 10741539 | 130006627 | 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 | 2018-01-29 | 1)authoriseddate | 2018-01-29 | 2018-01-29 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117634 | 10415766 | 130006629 | 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 | 2019-10-11 | 3)receiveddate | 2019-08-15 | 2019-10-11 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117635 | 11838083 | 130006630 | 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 | 2017-08-08 | 1)authoriseddate | 2017-09-08 | 2017-08-08 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117636 | 11167502 | 130006632 | 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 | 2017-09-14 | 1)authoriseddate | 2017-10-13 | 2017-09-15 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117637 | 11787612 | 130006633 | 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 | 2016-11-10 | 1)authoriseddate | 2016-11-26 | 2016-11-10 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117638 | 10990243 | 130006634 | KRAS | 47 | 7 | 7 | 7 | a:abnormal,b:normal,b:normal,a:abnormal,a:abnormal,b:normal,b:normal | 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 | 2018-11-03 | 1)authoriseddate | 2018-11-22 | 2018-11-03 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130117639 | 10819723 | 130006635 | 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 | 2017-02-03 | 1)authoriseddate | 2016-12-27 | 2017-02-03 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130117640 | 10235079 | 130006637 | 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 | 2019-08-15 | 1)authoriseddate | 2019-04-14 | 2019-08-15 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130117641 | 10644310 | 130006638 | 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 | 2019-03-28 | 1)authoriseddate | 2019-01-22 | 2019-03-28 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130117642 | 10262291 | 130006641 | 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 | 2019-03-26 | 1)authoriseddate | 2019-04-25 | 2019-03-26 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117643 | 10535844 | 130006642 | 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 | 2019-12-19 | 3)receiveddate | 2019-12-27 | 2019-12-19 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117644 | 11477940 | 130006643 | 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 | 2019-04-13 | 3)receiveddate | 2019-05-08 | 2019-04-13 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117645 | 11753915 | 130006644 | 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 | 2018-02-07 | 3)receiveddate | 2018-03-05 | 2018-02-07 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117646 | 11141367 | 130006645 | 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 | 2019-12-01 | 1)authoriseddate | 2019-12-29 | 2019-12-01 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130117647 | 10583692 | 130006646 | 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 | 2017-06-19 | 1)authoriseddate | 2017-07-19 | 2017-06-19 | null | 0 | null | Real-Time / Quantitative PCR (qPCR) | Royal Marsden (molecular lab) |
| 130117648 | 11125719 | 130006647 | 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 | 2017-07-24 | 3)receiveddate | 2017-06-25 | 2017-07-24 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117649 | 10735263 | 130006650 | 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 | 2017-01-28 | 3)receiveddate | 2017-01-18 | 2017-01-28 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130117650 | 11691344 | 130006651 | 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 | 2017-08-26 | 1)authoriseddate | 2017-08-13 | 2017-08-26 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130117651 | 10870347 | 130006652 | 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 | 2019-11-04 | 1)authoriseddate | 2019-10-18 | 2019-11-04 | null | 0 | null | Pyrosequencing | Leeds (molecular lab) |
| 130117652 | 11094894 | 130006654 | 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 | 2019-10-08 | 1)authoriseddate | 2019-10-31 | 2019-10-08 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117653 | 11598410 | 130006655 | 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 | 2019-09-03 | 1)authoriseddate | 2019-09-29 | 2019-09-03 | p.Gly12Va | 1 | p.Gly12Va | Pyrosequencing | Exeter (molecular lab) |
| 130117654 | 11093748 | 130006656 | 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 | 2019-01-08 | 1)authoriseddate | 2019-01-13 | 2019-08-12 | null | 0 | null | Pyrosequencing | Exeter (molecular lab) |
| 130117655 | 10232515 | 130006658 | 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 | 2018-12-15 | 1)authoriseddate | 2019-01-11 | 2018-12-15 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Birmingham (molecular lab) |
| 130117657 | 11248717 | 130006663 | KRAS | 47 | 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 | 2018-01-10 | 1)authoriseddate | 2018-01-11 | 2018-01-10 | null | 0 | null | Unknown | Pathology lab |
| 130117658 | 11878369 | 130006664 | 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.436G>A | c.436G>A | 2019-02-21 | 1)authoriseddate | 2019-02-07 | 2019-02-21 | p.Ala146Thr | 1 | p.Ala146Thr | Roche COBAS | Royal Marsden (molecular lab) |
| 130117659 | 11445293 | 130006666 | 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 | 2016-07-27 | 1)authoriseddate | 2016-08-18 | 2016-07-27 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Birmingham (molecular lab) |
| 130117660 | 10850685 | 130006667 | 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 | 2016-08-29 | 3)receiveddate | 2016-09-09 | 2016-08-29 | null | 0 | null | Pyrosequencing | Leeds (molecular lab) |
| 130117661 | 10174173 | 130006670 | 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 | 2019-06-24 | 3)receiveddate | 2019-05-27 | 2019-06-24 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117662 | 10714648 | 130006673 | 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 | 2017-01-23 | 1)authoriseddate | 2017-01-20 | 2017-01-23 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117663 | 10997663 | 130006674 | KRAS | 47 | 2 | 2 | 2 | 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.34G>T | c.34G>T | 2017-05-27 | 1)authoriseddate | 2017-05-01 | 2017-05-28 | p.Gly12Cys | 1 | p.Gly12Cys | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130117664 | 10743035 | 130006677 | 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 | 2018-06-06 | 1)authoriseddate | 2018-06-21 | 2018-06-06 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130117665 | 11541529 | 130006679 | 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>A | c.34G>A | 2019-09-21 | 1)authoriseddate | 2019-10-19 | 2019-09-21 | p.(Gly12Ser) | 1 | p.(Gly12Ser) | Pyrosequencing | Birmingham (molecular lab) |
| 130117666 | 11797225 | 130006681 | 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 | 2017-08-14 | 3)receiveddate | 2017-08-14 | 2017-08-14 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117667 | 10772298 | 130006682 | 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 | 2017-03-26 | 3)receiveddate | 2017-04-19 | 2017-03-26 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130117668 | 11947972 | 130006684 | 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 | 2018-07-07 | 3)receiveddate | 2018-04-06 | 2018-07-07 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130117669 | 11288143 | 130006686 | 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 | 2017-10-22 | 1)authoriseddate | 2017-11-14 | 2017-10-22 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |