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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130079533 | 10704552 | 130018934 | 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 | 2017-06-07 | 1)authoriseddate | 2017-06-27 | 2017-06-07 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130079534 | 10135972 | 130018935 | 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 | 2016-02-04 | 1)authoriseddate | 2016-02-17 | 2016-02-04 | null | 0 | null | Pyrosequencing | Bristol (molecular lab) |
| 130079535 | 10479664 | 130018936 | 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 | 2019-06-10 | 1)authoriseddate | 2019-06-25 | 2019-06-10 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130079536 | 11269902 | 130018937 | 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 | 2018-05-10 | 1)authoriseddate | 2018-05-21 | 2018-05-10 | p.Gly12Ala | 1 | p.Gly12Ala | Pyrosequencing | Bristol (molecular lab) |
| 130079537 | 10158395 | 130018938 | 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 | 2017-02-10 | 3)receiveddate | 2017-02-18 | 2017-02-10 | p.Gln61Lys | 1 | p.Gln61Lys | Pyrosequencing | Birmingham (molecular lab) |
| 130079538 | 10980606 | 130018939 | 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 | 2017-11-17 | 1)authoriseddate | 2017-03-22 | 2017-11-17 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130079539 | 10365158 | 130018940 | 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 | 2019-12-27 | 3)receiveddate | 2020-01-24 | 2019-12-27 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079540 | 11575691 | 130018941 | 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 | 2018-11-12 | 1)authoriseddate | 2018-11-28 | 2018-11-12 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130079541 | 10682175 | 130018942 | 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 | 2018-12-08 | 1)authoriseddate | 2019-01-02 | 2018-12-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130079542 | 11856700 | 130018943 | KRAS | 47 | 1 | 1 | 1 | f:not_tested | f:not_tested | 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 | 2016-08-09 | 1)authoriseddate | 2016-09-06 | 2016-08-09 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 130079543 | 11655036 | 130018944 | 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 | 2018-06-11 | 1)authoriseddate | 2018-06-12 | 2018-06-11 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 130079544 | 11678195 | 130018945 | 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 | 2018-11-28 | 3)receiveddate | 2018-12-14 | 2018-11-28 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130079545 | 11974757 | 130018947 | 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 | 2019-10-16 | 1)authoriseddate | 2019-11-11 | 2019-10-16 | p.Gly12Asp | 1 | p.Gly12Asp | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 130079546 | 11931501 | 130018948 | 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 | 2019-06-29 | 3)receiveddate | 2019-07-05 | 2019-06-29 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130079650 | 10450667 | 130019071 | 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 | 2019-06-05 | 2019-05-20 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130077950 | 11302570 | 130017160 | 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 | 2019-09-09 | 1)authoriseddate | 2019-10-06 | 2019-09-09 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130077952 | 10765090 | 130017162 | 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>T | c.351A>T | 2017-04-08 | 3)receiveddate | 2017-04-27 | 2017-04-08 | p.(Gln61Arg) | 1 | p.(Gln61Arg) | Pyrosequencing | Birmingham (molecular lab) |
| 130077953 | 11780232 | 130017163 | 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 | 2019-04-21 | 1)authoriseddate | 2019-05-07 | 2019-04-21 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Leeds (molecular lab) |
| 130077954 | 10621037 | 130017164 | 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 | 2016-11-04 | 1)authoriseddate | 2016-11-18 | 2016-11-04 | null | 0 | null | Pyrosequencing | Newcastle (molecular lab) |
| 130079547 | 10553772 | 130018949 | 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 | 2019-09-21 | 2)requesteddate | 2019-10-20 | 2019-09-21 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130079548 | 10849064 | 130018950 | 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 | 2018-09-13 | 1)authoriseddate | 2018-09-05 | 2018-09-13 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130079549 | 10256535 | 130018952 | 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 | 2016-12-22 | 1)authoriseddate | 2017-01-09 | 2016-12-22 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079550 | 10956672 | 130018953 | 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 | 2019-11-11 | 3)receiveddate | 2019-12-06 | 2019-11-11 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130079551 | 11235378 | 130018954 | 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 | 2017-02-28 | 1)authoriseddate | 2017-03-10 | 2017-02-28 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130079552 | 11234623 | 130018955 | 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 | 2018-09-20 | 1)authoriseddate | 2018-10-01 | 2018-09-20 | p.Gly13Asp | 1 | p.Gly13Asp | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130079553 | 11746824 | 130018956 | 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 | 2019-06-08 | 1)authoriseddate | 2019-07-06 | 2019-06-08 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079554 | 11449454 | 130018958 | 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 | 2018-08-14 | 3)receiveddate | 2018-09-12 | 2018-08-14 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130079555 | 11165320 | 130018959 | 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 | 2016-12-04 | 1)authoriseddate | 2016-10-29 | 2016-12-04 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 130079556 | 11313346 | 130018960 | 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 | 2019-09-01 | 1)authoriseddate | 2019-09-30 | 2019-09-01 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079557 | 10445045 | 130018961 | 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 | 2017-12-31 | 3)receiveddate | 2018-01-28 | 2017-12-31 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130079558 | 11478216 | 130018962 | 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 | 2017-10-06 | 2)requesteddate | 2017-10-06 | 2017-10-06 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130079559 | 10146264 | 130018963 | 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 | 2019-03-30 | 3)receiveddate | 2019-02-12 | 2019-03-30 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079560 | 11776247 | 130018964 | 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 | 2019-05-18 | 1)authoriseddate | 2019-06-13 | 2019-05-18 | null | 0 | null | Pyrosequencing | Leeds (molecular lab) |
| 130079561 | 10014948 | 130018965 | 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 | 2018-01-21 | 1)authoriseddate | 2018-02-13 | 2018-01-21 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130079562 | 10900056 | 130018966 | 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 | 2018-01-07 | 1)authoriseddate | 2018-01-05 | 2018-01-07 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079563 | 11382415 | 130018967 | 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 | 2019-07-23 | 1)authoriseddate | 2019-08-13 | 2019-07-23 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130079564 | 11777423 | 130018968 | 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 | 2019-07-26 | 3)receiveddate | 2019-08-22 | 2019-09-25 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079565 | 10865463 | 130018969 | 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 | 2019-06-12 | 3)receiveddate | 2019-07-08 | 2019-06-12 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079567 | 10820204 | 130018971 | 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 | 2018-10-13 | 2018-10-10 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130079568 | 10231326 | 130018972 | 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 | 2018-01-20 | 1)authoriseddate | 2018-02-17 | 2018-02-11 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130079569 | 10150091 | 130018976 | 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 | 2018-05-02 | 3)receiveddate | 2018-05-25 | 2018-05-02 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079570 | 11563107 | 130018977 | 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 | 2017-07-08 | 1)authoriseddate | 2017-08-03 | 2017-07-08 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079571 | 11752447 | 130018979 | 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 | 2018-08-29 | 3)receiveddate | 2018-08-04 | 2018-08-29 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079572 | 11881085 | 130018980 | 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 | 2016-03-12 | 1)authoriseddate | 2016-04-07 | 2016-03-12 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079573 | 11245895 | 130018982 | 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 | 2017-03-27 | 1)authoriseddate | 2017-02-27 | 2017-03-27 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079574 | 11382988 | 130018984 | 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 | 2019-09-26 | 1)authoriseddate | 2019-09-26 | 2019-09-26 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |
| 130079575 | 10310342 | 130018985 | 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 | 2016-07-08 | 3)receiveddate | 2016-07-31 | 2016-07-08 | p.(Gly12Ser) | 1 | p.(Gly12Ser) | Pyrosequencing | Birmingham (molecular lab) |
| 130079576 | 11980141 | 130018986 | 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 | 2018-05-09 | 3)receiveddate | 2018-06-06 | 2018-05-09 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130079577 | 10471345 | 130018987 | 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 | 2019-07-07 | 1)authoriseddate | 2019-07-09 | 2019-07-07 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130079578 | 11737167 | 130018988 | 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 | 2016-07-13 | 3)receiveddate | 2016-08-11 | 2016-07-13 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |