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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130106656 | 10104844 | 130018373 | 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 | 2017-08-04 | 1)authoriseddate | 2017-08-19 | 2017-08-04 | p.(Gly12Ser) | 1 | p.(Gly12Ser) | Pyrosequencing | Birmingham (molecular lab) |
| 130106657 | 11016415 | 130018374 | 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 | 2018-12-21 | 1)authoriseddate | 2019-01-12 | 2018-12-21 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130106658 | 11918229 | 130018375 | 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 | 2019-03-14 | 1)authoriseddate | 2019-04-12 | 2019-03-14 | p.Gly13Asp | 1 | p.Gly13Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130106659 | 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 | 2017-11-27 | 2017-11-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130106660 | 10934608 | 130018377 | 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 | 2018-06-13 | 1)authoriseddate | 2018-06-23 | 2018-06-13 | p.Gly12Asp | 1 | p.Gly12Asp | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 130106661 | 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 | 2019-04-25 | 2019-05-04 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106662 | 11015239 | 130018379 | 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 | 2019-09-05 | 1)authoriseddate | 2019-09-22 | 2019-09-05 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130106663 | 11409371 | 130018380 | 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 | 2019-07-02 | 1)authoriseddate | 2019-06-26 | 2019-07-02 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130106665 | 11664593 | 130018382 | 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 | 2019-05-02 | 1)authoriseddate | 2019-04-07 | 2019-05-02 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106666 | 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 | 1)authoriseddate | 2019-06-02 | 2019-05-10 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106667 | 10417479 | 130018385 | 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 | 2019-07-09 | 1)authoriseddate | 2019-08-02 | 2019-07-09 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130106668 | 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 | 2018-11-26 | 2018-10-31 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130106669 | 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 | 1)authoriseddate | 2019-12-29 | 2019-12-16 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106670 | 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 | 2019-06-11 | 2019-05-20 | null | 0 | null | Microsatellite Instability Testing | Newcastle (molecular lab) |
| 130106671 | 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.35G>A | c.35G>A | 2017-07-15 | 1)authoriseddate | 2017-06-25 | 2017-07-15 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130106672 | 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 | 1)authoriseddate | 2019-01-15 | 2019-05-19 | null | 0 | null | Sequencing, Dideoxy/Sanger | Exeter (molecular lab) |
| 130106673 | 10422441 | 130018391 | 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 | 2019-10-02 | 1)authoriseddate | 2019-10-21 | 2019-10-02 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130106674 | 11169211 | 130018392 | 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 | 2017-06-26 | 1)authoriseddate | 2017-07-14 | 2017-06-26 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130106675 | 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 | 1)authoriseddate | 2019-07-15 | 2019-06-16 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106676 | 10715303 | 130018395 | 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 | 2019-03-24 | 1)authoriseddate | 2019-03-28 | 2019-03-24 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130106678 | 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 | 2017-11-07 | 2017-10-11 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106679 | 10299373 | 130018401 | 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 | 2019-04-18 | 1)authoriseddate | 2019-05-13 | 2019-04-18 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Royal Marsden (molecular lab) |
| 130106680 | 10669181 | 130018402 | 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 | 2016-08-07 | 1)authoriseddate | 2016-08-18 | 2018-03-09 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130106681 | 10088696 | 130018403 | 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 | 2018-07-31 | 1)authoriseddate | 2018-08-26 | 2018-07-31 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130106682 | 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 | 2019-03-05 | 2019-06-09 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106683 | 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 | 2018-06-26 | 2018-06-14 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130106684 | 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 | 2019-10-05 | 2019-09-26 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106685 | 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 | 1)authoriseddate | 2019-05-12 | 2019-04-16 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130106686 | 11210107 | 130018409 | 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 | 2017-07-09 | 3)receiveddate | 2016-12-02 | 2017-07-09 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106687 | 11413450 | 130018410 | 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 | 2019-08-30 | 3)receiveddate | 2019-09-12 | 2020-01-21 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130106689 | 11603929 | 130018412 | 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>C | c.183A>C | 2018-05-09 | 1)authoriseddate | 2018-06-03 | 2018-05-09 | p.(Gln61His) | 1 | p.(Gln61His) | Pyrosequencing | Birmingham (molecular lab) |
| 130106690 | 11499562 | 130018413 | 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 | 2018-10-11 | 1)authoriseddate | 2018-11-05 | 2018-10-11 | null | 0 | null | Pyrosequencing | Bristol (molecular lab) |
| 130106691 | 10635346 | 130018414 | 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 | 2019-08-11 | 1)authoriseddate | 2019-09-07 | 2019-08-11 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Leeds (molecular lab) |
| 130106692 | 10594206 | 130018415 | 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 | 2019-07-09 | 1)authoriseddate | 2019-08-04 | 2019-07-09 | null | 0 | null | Pyrosequencing | Newcastle (molecular lab) |
| 130106693 | 11201785 | 130018416 | 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 | 2019-07-08 | 1)authoriseddate | 2019-08-02 | 2019-07-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130106694 | 11663004 | 130018420 | 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 | 2019-10-07 | 1)authoriseddate | 2019-11-04 | 2019-10-07 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130106695 | 10350251 | 130018421 | 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 | 2017-07-18 | 1)authoriseddate | 2017-07-24 | 2017-07-18 | p.(Gly12Ser) | 1 | p.(Gly12Ser) | Pyrosequencing | Birmingham (molecular lab) |
| 130106696 | 11334453 | 130018422 | 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 | 2017-06-14 | 1)authoriseddate | 2017-07-05 | 2017-06-14 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130106697 | 10229013 | 130018423 | 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 | 2018-09-20 | 1)authoriseddate | 2018-10-20 | 2018-09-20 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106698 | 11055331 | 130018424 | 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 | 2019-04-17 | 3)receiveddate | 2019-05-10 | 2019-04-17 | null | 0 | null | Pyrosequencing | Cambridge (molecular lab) |
| 130106699 | 10270868 | 130018425 | 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 | 2019-05-30 | 1)authoriseddate | 2019-06-28 | 2019-05-30 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106700 | 10101477 | 130018426 | 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 | 2017-09-06 | 1)authoriseddate | 2017-10-02 | 2017-09-06 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106701 | 11448320 | 130018427 | 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 | 2017-12-23 | 1)authoriseddate | 2018-01-16 | 2017-12-23 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130106702 | 11907153 | 130018428 | 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 | 2018-07-03 | 1)authoriseddate | 2018-07-16 | 2018-07-03 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106703 | 11441261 | 130018429 | 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 | 2018-10-14 | 1)authoriseddate | 2018-10-30 | 2018-10-14 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130106704 | 11686352 | 130018430 | 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 | 2019-09-09 | 1)authoriseddate | 2019-10-02 | 2019-09-09 | p.(Gly12Ala) | 1 | p.(Gly12Ala) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130106705 | 10160022 | 130018431 | 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 | 2019-03-07 | 1)authoriseddate | 2019-03-29 | 2019-03-07 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106706 | 10446367 | 130018432 | 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 | 2017-07-17 | 3)receiveddate | 2017-07-19 | 2017-07-17 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130106707 | 10571086 | 130018433 | 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 | 2019-10-21 | 1)authoriseddate | 2019-10-28 | 2019-10-21 | null | 0 | null | Pyrosequencing | Cambridge (molecular lab) |
| 130106708 | 11021378 | 130018434 | 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 | 2019-03-31 | 3)receiveddate | 2019-04-28 | 2019-03-31 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Cambridge (molecular lab) |