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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130078419 | 11278291 | 130017681 | 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 | 2019-01-30 | 1)authoriseddate | 2018-12-20 | 2019-01-30 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130078420 | 11560236 | 130017682 | 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 | 2018-01-12 | 1)authoriseddate | 2018-01-29 | 2018-01-12 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130078421 | 10392528 | 130017683 | 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 | 2019-12-30 | 3)receiveddate | 2020-01-09 | 2019-12-30 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130078422 | 10396499 | 130017684 | 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 | 2019-01-09 | 1)authoriseddate | 2019-01-23 | 2019-01-09 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130078423 | 10533864 | 130017685 | 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 | 2018-11-08 | 1)authoriseddate | 2018-11-23 | 2018-11-08 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130078424 | 10531182 | 130017686 | 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 | 2019-07-18 | 3)receiveddate | 2019-08-13 | 2019-07-23 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130078426 | 10959521 | 130017688 | 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 | 2018-10-23 | 1)authoriseddate | 2018-11-21 | 2018-10-23 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130078427 | 10602198 | 130017689 | 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 | 2019-12-13 | 1)authoriseddate | 2020-01-08 | 2019-12-13 | p.Gly13Asp | 1 | p.Gly13Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130078428 | 10318216 | 130017690 | 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 | 2019-09-06 | 1)authoriseddate | 2019-10-04 | 2019-09-06 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130078429 | 11364585 | 130017691 | 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 | 2019-07-27 | 3)receiveddate | 2019-07-31 | 2019-07-27 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130078430 | 11381671 | 130017692 | 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 | Pyrosequencing | Birmingham (molecular lab) |
| 130078431 | 10763462 | 130017694 | 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 | 2019-11-03 | 3)receiveddate | 2019-11-23 | 2019-11-03 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130078432 | 10438292 | 130017695 | 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 | 2018-12-11 | 3)receiveddate | 2019-01-09 | 2018-12-11 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130078434 | 10369237 | 130017697 | 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 | 2018-05-01 | 1)authoriseddate | 2016-02-25 | 2018-05-01 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130078436 | 10514654 | 130017699 | 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 | 2018-05-30 | 1)authoriseddate | 2018-06-28 | 2018-05-30 | null | 0 | null | Pyrosequencing | Nottingham (molecular lab) |
| 130078438 | 11576693 | 130017701 | 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 | 2017-03-11 | 3)receiveddate | 2017-04-05 | 2017-03-11 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130078439 | 10774841 | 130017702 | 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 | 2019-09-02 | 1)authoriseddate | 2019-10-01 | 2019-09-02 | p.(Gly12Ser) | 1 | p.(Gly12Ser) | Pyrosequencing | Birmingham (molecular lab) |
| 130078440 | 10642604 | 130017703 | 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 | 2018-02-15 | 1)authoriseddate | 2018-03-10 | 2018-02-15 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Bristol (molecular lab) |
| 130078441 | 11916763 | 130017704 | 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 | 2019-04-11 | 1)authoriseddate | 2018-10-26 | 2019-04-11 | p.(Gly12Ser) | 1 | p.(Gly12Ser) | Pyrosequencing | Birmingham (molecular lab) |
| 130078442 | 10072771 | 130017705 | 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 | 2017-12-28 | 1)authoriseddate | 2018-01-25 | 2017-12-28 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130015947 | 10867345 | 130015947 | NRAS | 56 | 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 | 2019-08-17 | 3)receiveddate | 2019-08-14 | 2019-08-17 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130078448 | 10987016 | 130017711 | 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 | 2017-01-09 | 1)authoriseddate | 2017-01-29 | 2017-01-09 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130078449 | 11185517 | 130017712 | 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 | 2018-09-23 | 3)receiveddate | 2018-10-05 | 2021-06-22 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130078451 | 11893462 | 130017715 | KRAS | 47 | 2 | 2 | 2 | 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.175G>A | c.175G>A | 2016-08-21 | 1)authoriseddate | 2016-09-19 | 2016-08-21 | p.Gln61Lys | 1 | p.Gln61Lys | Pyrosequencing | Birmingham (molecular lab) |
| 130078452 | 11078960 | 130017716 | 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 | 2019-07-04 | 1)authoriseddate | 2019-08-02 | 2019-07-04 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130078453 | 10153511 | 130017717 | 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 | 2019-10-30 | 3)receiveddate | 2019-11-22 | 2019-10-30 | p.Ala146Thr | 1 | p.Ala146Thr | Pyrosequencing | Birmingham (molecular lab) |
| 130078456 | 11839230 | 130017721 | 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 | 2017-09-20 | 1)authoriseddate | 2017-09-21 | 2017-09-20 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130078457 | 11348187 | 130017722 | KRAS | 47 | 1 | 3 | 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 | 2019-07-18 | 3)receiveddate | 2019-08-16 | 2019-07-18 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130078458 | 11365010 | 130017723 | 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 | 2017-06-17 | 3)receiveddate | 2017-06-19 | 2017-06-17 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130078459 | 10400871 | 130017724 | 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 | 2018-12-02 | 1)authoriseddate | 2018-12-29 | 2018-12-02 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130078460 | 11347970 | 130017725 | 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 | 2018-05-28 | 1)authoriseddate | 2018-06-17 | 2018-05-28 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130078462 | 10727867 | 130017727 | 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 | 2018-05-27 | 1)authoriseddate | 2018-06-14 | 2018-05-27 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130078463 | 11060659 | 130017728 | 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 | 2019-05-04 | 1)authoriseddate | 2019-05-10 | 2019-05-04 | Gly12Asp,P.Gly12Asp | 2 | multiple | Pyrosequencing | Royal Marsden (molecular lab) |
| 130078464 | 10685902 | 130017730 | 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 | 2016-04-18 | 3)receiveddate | 2016-05-02 | 2016-04-18 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130078466 | 11448757 | 130017732 | 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 | 2019-03-21 | 2019-06-26 | null | 0 | null | Pyrosequencing | Newcastle (molecular lab) |
| 130078468 | 10134464 | 130017734 | 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 | 2018-07-01 | 1)authoriseddate | 2018-07-11 | 2018-07-01 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Nottingham (molecular lab) |
| 130078469 | 11328830 | 130017735 | 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 | 2018-12-11 | 3)receiveddate | 2019-01-03 | 2018-12-11 | p.(Gly12Ala) | 1 | p.(Gly12Ala) | Pyrosequencing | Bristol (molecular lab) |
| 130078470 | 10296387 | 130017736 | 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 | 2018-09-02 | 1)authoriseddate | 2018-09-29 | 2018-09-02 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130078472 | 10053446 | 130017738 | 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 | 2019-08-05 | 1)authoriseddate | 2019-08-26 | 2019-08-05 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130078473 | 10077003 | 130017739 | 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>T | c.35G>T | 2018-11-08 | 1)authoriseddate | 2018-12-06 | 2018-11-08 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130078475 | 10820680 | 130017741 | 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 | 2017-05-02 | 1)authoriseddate | 2017-05-31 | 2017-05-02 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130078476 | 11778982 | 130017743 | 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 | 2019-09-18 | 1)authoriseddate | 2019-05-09 | 2019-09-18 | null | 0 | null | Pyrosequencing | Leeds (molecular lab) |
| 130078478 | 10443889 | 130017745 | 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 | 2018-03-08 | 1)authoriseddate | 2018-04-03 | 2018-03-08 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Nottingham (molecular lab) |
| 130078480 | 11519053 | 130017747 | 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.37G>T | c.37G>T | 2019-08-04 | 1)authoriseddate | 2019-08-15 | 2019-08-04 | p.G13E | 1 | p.G13E | Pyrosequencing | Birmingham (molecular lab) |
| 130078485 | 10500792 | 130017753 | 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 | 2017-06-12 | 3)receiveddate | 2017-06-28 | 2017-06-12 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130078486 | 11691383 | 130017754 | 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 | 2018-08-04 | 1)authoriseddate | 2018-08-29 | 2018-08-04 | null | 0 | null | Pyrosequencing | Leeds (molecular lab) |
| 130078487 | 10803762 | 130017755 | 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 | 2019-09-12 | 3)receiveddate | 2019-10-06 | 2019-09-12 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130078489 | 10824544 | 130017757 | 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 | 2016-12-22 | 1)authoriseddate | 2017-01-18 | 2016-12-22 | p.(Ala146Thr) | 1 | p.(Ala146Thr) | Pyrosequencing | Birmingham (molecular lab) |
| 130078490 | 10747991 | 130017758 | 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.183A>T | c.183A>T | 2019-04-07 | 1)authoriseddate | 2019-05-03 | 2019-04-07 | p.Gln61His | 1 | p.Gln61His | Pyrosequencing | Birmingham (molecular lab) |
| 130078492 | 10822882 | 130017760 | 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 | 2017-05-29 | 1)authoriseddate | 2017-06-20 | 2017-05-29 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Manchester (molecular lab) |