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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130106392 | 10930118 | 130018057 | KRAS | 47 | 1 | 2 | 1 | e:failed,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 | 2019-06-21 | 1)authoriseddate | 2019-05-05 | 2019-06-21 | null | 0 | null | Pyrosequencing | Leeds (molecular lab) |
| 130106393 | 10523306 | 130018059 | KRAS | 47 | 2 | 2 | 2 | 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 | 2018-02-13 | 1)authoriseddate | 2018-03-12 | 2018-02-13 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106394 | 10376297 | 130018060 | 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 | 2018-07-22 | 1)authoriseddate | 2018-08-08 | 2018-07-22 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130106395 | 11071518 | 130018062 | 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 | 2019-12-30 | 1)authoriseddate | 2020-01-23 | 2019-12-30 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106396 | 10937101 | 130018063 | 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 | 2019-02-27 | 1)authoriseddate | 2019-03-27 | 2019-02-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130106397 | 10688237 | 130018064 | 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 | 2019-04-24 | 1)authoriseddate | 2019-05-06 | 2019-04-24 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106398 | 10706309 | 130018065 | 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.181C>G | c.181C>G | 2018-11-30 | 1)authoriseddate | 2018-12-02 | 2018-11-30 | p.Gln61Leu | 1 | p.Gln61Leu | Pyrosequencing | Birmingham (molecular lab) |
| 130106399 | 10781719 | 130018066 | 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 | 2018-11-16 | 1)authoriseddate | 2018-12-03 | 2018-11-16 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106400 | 10116644 | 130018067 | 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 | 2019-10-28 | 1)authoriseddate | 2019-11-23 | 2019-10-28 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106401 | 10909141 | 130018068 | 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 | 2019-03-05 | 3)receiveddate | 2019-03-28 | 2019-03-05 | null | 0 | null | Pyrosequencing | Cambridge (molecular lab) |
| 130106402 | 11432344 | 130018069 | 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 | 2018-05-20 | 1)authoriseddate | 2018-06-16 | 2018-05-20 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130106404 | 11228435 | 130018071 | 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 | 2019-07-20 | 2019-06-24 | p.Gly12Asp | 1 | p.Gly12Asp | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130106405 | 10937826 | 130018072 | 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 | 2018-07-29 | 3)receiveddate | 2018-07-29 | 2018-07-29 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106406 | 10282075 | 130018073 | 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 | 2016-06-19 | 1)authoriseddate | 2016-07-06 | 2016-06-19 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130106407 | 11906624 | 130018075 | 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 | 2019-06-03 | 1)authoriseddate | 2019-06-10 | 2019-06-03 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130106408 | 10572402 | 130018076 | 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 | 2016-12-08 | 1)authoriseddate | 2017-01-06 | 2016-12-08 | null | 0 | null | Pyrosequencing | Exeter (molecular lab) |
| 130106409 | 11540647 | 130018078 | 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 | 2016-03-16 | 1)authoriseddate | 2016-04-11 | 2016-03-16 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130106410 | 10155791 | 130018079 | 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 | 2019-05-02 | 1)authoriseddate | 2019-05-19 | 2019-05-02 | p.(Ala146Thr) | 1 | p.(Ala146Thr) | Pyrosequencing | Birmingham (molecular lab) |
| 130106411 | 10927667 | 130018080 | 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 | 2016-05-03 | 1)authoriseddate | 2016-05-31 | 2016-05-03 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130106412 | 11338259 | 130018081 | 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 | 2017-09-13 | 1)authoriseddate | 2017-10-09 | 2017-09-13 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106413 | 10826505 | 130018082 | 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, | 2018-03-19 | 1)authoriseddate | 2018-04-11 | 2018-03-19 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Manchester (molecular lab) |
| 130106414 | 10086981 | 130018083 | 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 | 2017-09-23 | 1)authoriseddate | 2017-09-18 | 2017-09-23 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130106415 | 11037152 | 130018084 | 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 | 2018-04-29 | 3)receiveddate | 2018-05-09 | 2018-04-29 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106416 | 11629127 | 130018086 | 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 | 2019-08-16 | 1)authoriseddate | 2019-07-12 | 2019-08-16 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106417 | 10017944 | 130018087 | 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 | 2019-07-27 | 3)receiveddate | 2019-08-25 | 2019-07-27 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130106418 | 10842387 | 130018089 | 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 | 2018-07-03 | 1)authoriseddate | 2018-05-24 | 2018-07-03 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Royal Marsden (molecular lab) |
| 130106419 | 10394366 | 130018090 | 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 | 2017-07-05 | 1)authoriseddate | 2017-05-31 | 2017-07-06 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130106420 | 11351439 | 130018091 | 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 | 2018-10-01 | 1)authoriseddate | 2018-10-27 | 2018-10-01 | null | 0 | null | Pyrosequencing | Leeds (molecular lab) |
| 130106421 | 10148926 | 130018092 | 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 | 2017-06-25 | 1)authoriseddate | 2017-04-25 | 2017-06-25 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106422 | 11948500 | 130018093 | 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 | 2016-10-26 | 2017-06-12 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106423 | 11582438 | 130018095 | 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 | 2017-09-17 | 1)authoriseddate | 2017-10-04 | 2017-09-17 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130106424 | 10310628 | 130018097 | 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_35delinsAA | c.34_35delinsAA | 2018-07-17 | 1)authoriseddate | 2018-08-08 | 2018-07-17 | p.(Lys117Arg) | 1 | p.(Lys117Arg) | Pyrosequencing | Birmingham (molecular lab) |
| 130106425 | 11083440 | 130018098 | 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 | 1)authoriseddate | 2019-07-08 | 2019-06-25 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106426 | 10272165 | 130018100 | 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 | 2018-09-25 | 1)authoriseddate | 2018-08-02 | 2018-09-25 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130106427 | 11744117 | 130018101 | 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 | 2019-09-02 | 1)authoriseddate | 2019-08-31 | 2019-09-02 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106428 | 11842968 | 130018103 | 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 | 2018-03-09 | 1)authoriseddate | 2018-03-09 | 2018-03-09 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106429 | 11754192 | 130018104 | 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 | 2019-07-14 | 1)authoriseddate | 2019-07-15 | 2019-07-14 | p.Gly13Asp | 1 | p.Gly13Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130106430 | 10914262 | 130018106 | 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.35G>A | c.35G>A | 2017-10-09 | 1)authoriseddate | 2017-10-28 | 2017-10-09 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130106431 | 10129173 | 130018107 | 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 | 1)authoriseddate | 2019-03-13 | 2019-02-26 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130106432 | 11110319 | 130018108 | 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 | 2019-04-06 | 1)authoriseddate | 2018-11-08 | 2019-04-06 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106434 | 10728167 | 130018112 | 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 | 2019-02-19 | 1)authoriseddate | 2019-03-11 | 2019-02-19 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130106435 | 10363072 | 130018113 | 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 | 2019-10-08 | 1)authoriseddate | 2019-11-05 | 2019-10-08 | p.Gly12Cys | 1 | p.Gly12Cys | Sequencing, Next Generation (NGS) | Bristol (molecular lab) |
| 130106436 | 10981214 | 130018114 | 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 | 2019-07-14 | 1)authoriseddate | 2018-08-28 | 2019-07-14 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 130106437 | 10793949 | 130018115 | 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 | 2019-02-22 | 1)authoriseddate | 2019-03-07 | 2019-02-22 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130106438 | 11845567 | 130018116 | 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 | 2018-05-19 | 1)authoriseddate | 2018-06-11 | 2018-05-19 | p.(Ala146Thr) | 1 | p.(Ala146Thr) | Pyrosequencing | Birmingham (molecular lab) |
| 130106439 | 11248592 | 130018117 | 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 | 2017-07-11 | 2017-06-19 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130106440 | 11856650 | 130018118 | 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 | 2017-10-14 | 1)authoriseddate | 2017-11-09 | 2017-10-14 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106441 | 11987276 | 130018119 | 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 | 2018-08-01 | 1)authoriseddate | 2018-08-06 | 2018-08-01 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130106442 | 11247003 | 130018120 | 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>T | c.38G>T | 2018-09-02 | 1)authoriseddate | 2018-09-08 | 2018-09-02 | p.(Ala59Gly) | 1 | p.(Ala59Gly) | Pyrosequencing | Birmingham (molecular lab) |
| 130106443 | 10485698 | 130018121 | 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 | 2018-08-08 | 1)authoriseddate | 2018-09-01 | 2018-08-08 | p.(Gly12Ser) | 1 | p.(Gly12Ser) | Pyrosequencing | Birmingham (molecular lab) |