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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130048469 | 11298815 | 130017479 | KRAS | 47 | 2 | 2 | 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 | 2018-07-12 | 1)authoriseddate | 2018-07-21 | 2018-07-12 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048470 | 11160078 | 130017480 | 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 | 2018-08-28 | 1)authoriseddate | 2018-07-07 | 2018-08-28 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 130048471 | 11485872 | 130017481 | 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 | 2016-12-25 | 1)authoriseddate | 2017-01-23 | 2016-12-25 | p.(Gly12Ala) | 1 | p.(Gly12Ala) | Pyrosequencing | Birmingham (molecular lab) |
| 130048472 | 11155920 | 130017482 | 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.351A>C | c.351A>C | 2016-04-13 | 1)authoriseddate | 2016-05-08 | 2016-04-13 | p.Ala146Thr,p.Gln61His | 2 | multiple | Pyrosequencing | Royal Marsden (molecular lab) |
| 130048473 | 11434892 | 130017483 | 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 | 2016-03-21 | 3)receiveddate | 2016-04-08 | 2016-03-21 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048474 | 11619330 | 130017484 | 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 | 2018-07-01 | 3)receiveddate | 2018-06-07 | 2018-07-01 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048475 | 11525140 | 130017485 | 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 | 2018-04-28 | 3)receiveddate | 2018-05-19 | 2018-04-28 | p.Gly12Cys | 1 | p.Gly12Cys | Pyrosequencing | Birmingham (molecular lab) |
| 130048476 | 10704049 | 130017486 | 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 | 2017-09-28 | 1)authoriseddate | 2017-08-20 | 2017-09-28 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 130048477 | 10069003 | 130017487 | 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 | 2018-12-25 | 1)authoriseddate | 2018-12-01 | 2018-12-25 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130048479 | 11704177 | 130017489 | 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 | 2018-11-06 | 3)receiveddate | 2018-10-31 | 2018-11-06 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048480 | 10970625 | 130017490 | 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 | 2017-08-05 | 3)receiveddate | 2017-08-01 | 2017-08-05 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048481 | 10948030 | 130017491 | 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 | 2018-03-14 | 3)receiveddate | 2018-03-29 | 2018-03-14 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130048482 | 11176050 | 130017492 | 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 | 2018-08-23 | 3)receiveddate | 2018-08-29 | 2018-08-23 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048484 | 10249577 | 130017494 | 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 | 2017-09-08 | 3)receiveddate | 2016-11-08 | 2017-09-08 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048485 | 10083601 | 130017495 | 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 | 2019-02-03 | 1)authoriseddate | 2019-02-25 | 2019-02-03 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048487 | 11117351 | 130017497 | 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 | 2019-11-25 | 1)authoriseddate | 2019-10-27 | 2019-11-25 | p.Gly13Asp | 1 | p.Gly13Asp | Pyrosequencing | Cambridge (molecular lab) |
| 130048489 | 11655319 | 130017499 | 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 | 2018-12-20 | 1)authoriseddate | 2019-01-06 | 2019-05-06 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048492 | 11153431 | 130017502 | 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 | 2018-02-20 | 1)authoriseddate | 2018-03-18 | 2018-02-20 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048494 | 10714725 | 130017504 | 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 | 2019-04-23 | 1)authoriseddate | 2019-04-28 | 2019-04-23 | null | 0 | null | Pyrosequencing | Newcastle (molecular lab) |
| 130048495 | 10593631 | 130017505 | 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 | 2018-12-16 | 1)authoriseddate | 2019-01-11 | 2018-12-16 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048496 | 10013774 | 130017506 | 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 | 2018-05-14 | 1)authoriseddate | 2018-05-16 | 2018-05-14 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048497 | 11407654 | 130017507 | 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 | 2019-09-21 | 1)authoriseddate | 2019-10-06 | 2019-09-21 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048498 | 11060936 | 130017508 | 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 | 2016-09-30 | 1)authoriseddate | 2016-10-05 | 2016-09-30 | null | 0 | null | Pyrosequencing | Leeds (molecular lab) |
| 130048499 | 10282294 | 130017509 | 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 | 2018-06-28 | 3)receiveddate | 2018-07-21 | 2018-06-28 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130048500 | 11951280 | 130017510 | 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 | 2017-02-17 | 3)receiveddate | 2017-03-16 | 2017-02-17 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048501 | 10016588 | 130017511 | 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 | 2018-06-27 | 1)authoriseddate | 2018-06-07 | 2018-06-27 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130015986 | 10170769 | 130015986 | 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 | 2019-06-15 | 2)requesteddate | 2019-07-14 | 2019-06-15 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048503 | 10119686 | 130017513 | 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.38G>A | c.38G>A | 2019-02-04 | 3)receiveddate | 2019-01-22 | 2019-02-04 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130048505 | 11231819 | 130017515 | 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.34_35delinsTT | c.34_35delinsTT | 2019-06-12 | 1)authoriseddate | 2019-07-10 | 2019-06-12 | p.(Lys117Arg) | 1 | p.(Lys117Arg) | Pyrosequencing | Nottingham (molecular lab) |
| 130048507 | 11585302 | 130017517 | 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 | 2016-12-02 | 1)authoriseddate | 2016-12-31 | 2016-12-02 | p.(Ala146Thr) | 1 | p.(Ala146Thr) | Pyrosequencing | Nottingham (molecular lab) |
| 130048508 | 10782159 | 130017518 | 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 | 2019-02-18 | 3)receiveddate | 2018-05-26 | 2019-02-18 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048509 | 11787546 | 130017519 | 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 | 2019-11-18 | 3)receiveddate | 2019-11-15 | 2019-11-18 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048510 | 10647910 | 130017520 | 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 | 2017-12-26 | 1)authoriseddate | 2017-12-16 | 2017-12-26 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048511 | 11071248 | 130017521 | 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 | 2019-01-28 | 3)receiveddate | 2019-01-24 | 2019-04-12 | p.(Gly12Asp | 1 | p.(Gly12Asp | Pyrosequencing | Bristol (molecular lab) |
| 130048512 | 11184906 | 130017522 | 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 | 2018-12-25 | 1)authoriseddate | 2019-01-02 | 2018-12-25 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048514 | 10341518 | 130017524 | 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 | 2019-11-03 | 3)receiveddate | 2019-10-09 | 2020-01-29 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130048515 | 10727774 | 130017525 | 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 | 2019-12-29 | 3)receiveddate | 2019-07-14 | 2019-12-29 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048516 | 10465194 | 130017526 | 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 | 2019-10-02 | 3)receiveddate | 2019-10-03 | 2019-10-02 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048517 | 10198685 | 130017528 | 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 | 2018-06-10 | 3)receiveddate | 2018-07-09 | 2018-06-10 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048518 | 11881736 | 130017529 | 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 | 2017-04-02 | 3)receiveddate | 2017-03-22 | 2017-04-02 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130048520 | 11730283 | 130017531 | 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 | 2019-08-04 | 3)receiveddate | 2019-07-25 | 2019-08-04 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130048521 | 10886901 | 130017532 | 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>C | c.35G>C | 2019-09-17 | 3)receiveddate | 2019-10-17 | 2019-09-17 | p.(Gly12Ala) | 1 | p.(Gly12Ala) | Pyrosequencing | Birmingham (molecular lab) |
| 130048522 | 11547201 | 130017533 | 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 | 2019-10-23 | 1)authoriseddate | 2019-10-17 | 2019-10-23 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048524 | 10320297 | 130017535 | 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 | 2017-05-09 | 1)authoriseddate | 2017-05-03 | 2017-05-09 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130048525 | 11204600 | 130017536 | 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 | 2019-06-25 | 3)receiveddate | 2019-06-26 | 2019-06-25 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048526 | 11742351 | 130017537 | 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 | 2)requesteddate | 2019-11-08 | 2019-12-28 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048527 | 11496370 | 130017538 | 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 | 2018-11-05 | 1)authoriseddate | 2018-11-28 | 2018-11-05 | p.Gly12Cys | 1 | p.Gly12Cys | Pyrosequencing | Birmingham (molecular lab) |
| 130048528 | 11792568 | 130017539 | 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 | 2018-10-10 | 1)authoriseddate | 2018-09-06 | 2018-10-10 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048529 | 11182474 | 130017540 | 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 | 2019-07-12 | 1)authoriseddate | 2019-07-13 | 2019-07-12 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130048530 | 11626055 | 130017541 | 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 | 2019-04-07 | 3)receiveddate | 2019-03-16 | 2019-04-07 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |