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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130079019 | 11633574 | 130018352 | 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 | 2019-07-31 | 1)authoriseddate | 2019-08-29 | 2019-07-31 | null | 0 | null | Pyrosequencing | Pathology lab |
| 130079020 | 11490888 | 130018353 | 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 | 2018-03-20 | 3)receiveddate | 2018-04-18 | 2018-03-20 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079021 | 11922803 | 130018355 | 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 | 2019-04-01 | 3)receiveddate | 2019-04-23 | 2019-04-01 | p.Gly12Ser | 1 | p.Gly12Ser | Pyrosequencing | Royal Marsden (molecular lab) |
| 130079022 | 11945345 | 130018356 | 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 | 2017-01-21 | 3)receiveddate | 2016-10-11 | 2017-01-21 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Cambridge (molecular lab) |
| 130079023 | 10741132 | 130018357 | 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 | 2019-05-05 | 1)authoriseddate | 2019-05-11 | 2019-05-05 | null | 0 | null | Pyrosequencing | Newcastle (molecular lab) |
| 130079024 | 11936106 | 130018358 | 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 | 2019-12-10 | 1)authoriseddate | 2019-12-28 | 2019-12-10 | null | 0 | null | Pyrosequencing | Nottingham (molecular lab) |
| 130079025 | 10856652 | 130018359 | 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 | 2019-09-19 | 3)receiveddate | 2019-09-26 | 2019-09-19 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130079026 | 11941066 | 130018360 | 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 | 2017-12-21 | 1)authoriseddate | 2018-01-18 | 2017-12-21 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079027 | 10373524 | 130018361 | 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.437C>T | c.437C>T | 2017-10-23 | 3)receiveddate | 2017-11-19 | 2017-10-23 | p.(Ala146Val) | 1 | p.(Ala146Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130079028 | 10893818 | 130018362 | 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 | 2018-05-24 | 1)authoriseddate | 2018-06-16 | 2018-05-24 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079029 | 11183709 | 130018363 | 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 | 1)authoriseddate | 2019-10-29 | 2019-10-02 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 130079030 | 11746734 | 130018364 | 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 | 2016-10-27 | 1)authoriseddate | 2016-11-06 | 2016-10-27 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130079031 | 11680323 | 130018365 | KRAS | 47 | 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.183A>T | c.183A>T | 2016-01-25 | 1)authoriseddate | 2016-02-23 | 2016-01-25 | p.(Gln61His) | 1 | p.(Gln61His) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130079032 | 11696965 | 130018366 | 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 | 2019-06-27 | 1)authoriseddate | 2019-07-19 | 2019-06-27 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130079033 | 11462473 | 130018367 | 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 | 2018-01-15 | 1)authoriseddate | 2018-01-24 | 2018-01-15 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130079035 | 11050909 | 130018370 | 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 | 2016-12-18 | 1)authoriseddate | 2017-01-15 | 2016-12-18 | p.(Gly13Asp),p.Gly13Asp | 2 | multiple | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130079036 | 10646601 | 130018371 | 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 | 2018-04-10 | 3)receiveddate | 2018-05-08 | 2018-04-10 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079037 | 11165822 | 130018372 | 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 | 2019-05-03 | 1)authoriseddate | 2019-03-30 | 2019-05-03 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079038 | 10104844 | 130018373 | 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 | 2017-08-04 | 1)authoriseddate | 2017-09-01 | 2017-08-04 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079039 | 11016415 | 130018374 | 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 | 2018-12-21 | 1)authoriseddate | 2018-12-18 | 2018-12-21 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079040 | 11918229 | 130018375 | 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 | 2019-03-14 | 1)authoriseddate | 2019-04-12 | 2020-08-15 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130079041 | 10414864 | 130018376 | 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 | 2017-11-30 | 1)authoriseddate | 2017-12-02 | 2017-11-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130079042 | 10934608 | 130018377 | 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 | 2018-06-13 | 1)authoriseddate | 2018-06-28 | 2018-06-13 | p.Gly13Asp | 1 | p.Gly13Asp | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130079043 | 10256241 | 130018378 | 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 | 2019-05-04 | 1)authoriseddate | 2019-05-14 | 2019-05-04 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079044 | 11015239 | 130018379 | 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 | 2019-09-05 | 1)authoriseddate | 2019-09-04 | 2019-09-05 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130079045 | 11409371 | 130018380 | 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 | 2019-07-02 | 1)authoriseddate | 2019-07-24 | 2019-07-02 | null | 0 | null | Pyrosequencing | Newcastle (molecular lab) |
| 130079047 | 11664593 | 130018382 | 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 | 2019-05-02 | 3)receiveddate | 2019-05-11 | 2019-05-02 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079048 | 10130151 | 130018384 | 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 | 2019-05-10 | 3)receiveddate | 2019-06-05 | 2019-05-10 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079049 | 10417479 | 130018385 | 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 | 2019-07-09 | 1)authoriseddate | 2019-08-05 | 2019-07-09 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 130079050 | 11434723 | 130018386 | 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 | 2018-10-31 | 1)authoriseddate | 2018-11-29 | 2018-10-31 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079051 | 11158900 | 130018387 | 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 | 2019-12-16 | 3)receiveddate | 2020-01-12 | 2019-12-16 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130079052 | 10970705 | 130018388 | 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 | 2019-05-20 | 1)authoriseddate | 2019-06-17 | 2019-05-20 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079053 | 11148957 | 130018389 | 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 | 2017-07-15 | 1)authoriseddate | 2017-08-11 | 2017-07-15 | p.Gly12Cys | 1 | p.Gly12Cys | Pyrosequencing | Birmingham (molecular lab) |
| 130079054 | 10772031 | 130018390 | 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 | 2019-05-19 | 3)receiveddate | 2019-05-24 | 2019-05-19 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079055 | 10422441 | 130018391 | 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 | 1)authoriseddate | 2019-10-31 | 2019-10-02 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079056 | 11169211 | 130018392 | KRAS | 47 | 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.37G>T | c.37G>T | 2017-06-26 | 3)receiveddate | 2017-07-25 | 2017-06-26 | p.Gly12Trp | 1 | p.Gly12Trp | Pyrosequencing | Birmingham (molecular lab) |
| 130079057 | 11863907 | 130018393 | 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 | 2017-06-01 | 1)authoriseddate | 2017-06-17 | 2017-06-01 | p.Gly13Asp | 1 | p.Gly13Asp | Pyrosequencing | Manchester (molecular lab) |
| 130079058 | 10522456 | 130018394 | 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 | 2019-06-16 | 3)receiveddate | 2019-07-11 | 2019-06-16 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079059 | 10715303 | 130018395 | 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 | 2019-03-24 | 3)receiveddate | 2019-04-16 | 2019-03-24 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079060 | 11266285 | 130018396 | 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 | 2019-06-12 | 3)receiveddate | 2019-07-10 | 2019-06-12 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130079061 | 11139409 | 130018398 | 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 | 2018-05-22 | 1)authoriseddate | 2018-05-02 | 2018-05-22 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |
| 130079063 | 10496730 | 130018400 | 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 | 2017-10-11 | 1)authoriseddate | 2017-10-22 | 2017-10-11 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130079064 | 10299373 | 130018401 | 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 | 2019-04-18 | 1)authoriseddate | 2019-05-09 | 2019-04-18 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079065 | 10669181 | 130018402 | 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 | 2016-08-07 | 1)authoriseddate | 2016-09-03 | 2017-06-04 | null | 0 | null | Pyrosequencing | Newcastle (molecular lab) |
| 130079066 | 10088696 | 130018403 | 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 | 2018-07-31 | 1)authoriseddate | 2018-08-28 | 2018-07-31 | p.Gly12Cys | 1 | p.Gly12Cys | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130079067 | 10315383 | 130018404 | 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 | 2019-06-09 | 1)authoriseddate | 2019-06-29 | 2019-06-09 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130079068 | 10774548 | 130018406 | 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 | 2018-06-14 | 1)authoriseddate | 2018-06-28 | 2018-06-14 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130079069 | 11654014 | 130018407 | 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 | 2019-09-26 | 1)authoriseddate | 2019-10-15 | 2019-09-26 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130079070 | 10393231 | 130018408 | 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 | 2019-04-16 | 3)receiveddate | 2019-05-09 | 2019-04-16 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079071 | 11210107 | 130018409 | 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 | 2017-07-09 | 3)receiveddate | 2017-05-14 | 2017-07-09 | p.Gly12Cys | 1 | p.Gly12Cys | Pyrosequencing | Birmingham (molecular lab) |