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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 100079751 | 11629718 | 100037917 | 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 | 2018-08-07 | 3)receiveddate | 2018-08-13 | 2018-08-09 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 100079752 | 10480564 | 100037918 | 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>C | c.34G>C | 2019-04-30 | 3)receiveddate | 2019-04-29 | 2019-04-30 | p.(Gln61His) | 1 | p.(Gln61His) | Pyrosequencing | Birmingham (molecular lab) |
| 100079753 | 10423029 | 100037919 | 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 | 2018-09-28 | 1)authoriseddate | 2018-10-03 | 2018-09-28 | p.(Gly12Ala) | 1 | p.(Gly12Ala) | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 100079754 | 10561946 | 100037920 | 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 | 2019-08-22 | 3)receiveddate | 2019-09-08 | 2019-08-22 | null | 0 | null | Unknown | Royal Marsden (molecular lab) |
| 100079755 | 11666753 | 100037921 | 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 | 2019-09-09 | 1)authoriseddate | 2019-09-23 | 2019-09-09 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 100079756 | 10476739 | 100037922 | 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 | 2018-11-17 | 1)authoriseddate | 2018-11-21 | 2018-11-17 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100079757 | 11904328 | 100037923 | 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 | 2019-11-06 | 1)authoriseddate | 2019-11-24 | 2019-11-06 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 100079758 | 10164376 | 100037924 | 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 | 2017-12-08 | 1)authoriseddate | 2017-12-18 | 2017-12-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100079759 | 10800712 | 100037925 | 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 | 2017-02-20 | 1)authoriseddate | 2017-02-11 | 2019-06-22 | null | 0 | null | Pyrosequencing | Leeds (molecular lab) |
| 100079760 | 11238457 | 100037926 | 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 | 3)receiveddate | 2019-01-04 | 2018-12-21 | null | 0 | null | Unknown | Royal Marsden (molecular lab) |
| 100079761 | 10971125 | 100037927 | 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 | 2018-05-24 | 1)authoriseddate | 2018-05-29 | 2018-05-24 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 100079762 | 11487763 | 100037928 | 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 | 2019-05-17 | 3)receiveddate | 2019-05-23 | 2019-05-17 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100079763 | 10395217 | 100037929 | 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 | 2016-02-18 | 3)receiveddate | 2016-03-17 | 2016-02-18 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100079764 | 11680759 | 100037930 | 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 | 2017-01-28 | 1)authoriseddate | 2017-01-26 | 2017-01-28 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Royal Marsden (molecular lab) |
| 100079765 | 10219652 | 100037931 | 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 | 2019-05-17 | 1)authoriseddate | 2019-05-24 | 2019-05-17 | p.(Gly12Val) | 1 | p.(Gly12Val) | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 100079766 | 11230546 | 100037932 | 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 | 2018-02-13 | 1)authoriseddate | 2015-12-20 | 2018-02-13 | null | 0 | null | Sequencing, Next Generation (NGS) | Sheffield (molecular lab) |
| 100079767 | 11465590 | 100037933 | 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 | 2018-07-17 | 1)authoriseddate | 2018-06-28 | 2018-07-17 | null | 0 | null | Sequencing, Next Generation (NGS) | Sheffield (molecular lab) |
| 100079768 | 11143516 | 100037934 | 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 | 2017-03-04 | 1)authoriseddate | 2017-03-17 | 2017-03-04 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 100079769 | 11716921 | 100037935 | 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 | 2019-09-17 | 3)receiveddate | 2019-10-16 | 2019-09-17 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Royal Marsden (molecular lab) |
| 100079770 | 10813835 | 100037936 | 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 | 2017-02-01 | 3)receiveddate | 2016-09-01 | 2017-02-01 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100079771 | 11178137 | 100037937 | 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 | 2017-06-10 | 1)authoriseddate | 2017-07-05 | 2017-06-10 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100079772 | 11192615 | 100037938 | 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 | 2018-12-07 | 1)authoriseddate | 2019-01-05 | 2018-12-07 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 100079773 | 11753019 | 100037939 | 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 | 2016-10-27 | 1)authoriseddate | 2016-10-12 | 2016-10-27 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 100079774 | 11647520 | 100037940 | KRAS | 47 | 1 | 2 | 1 | b:normal,e:failed | 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 | 2019-11-30 | 3)receiveddate | 2019-10-05 | 2019-11-30 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100079775 | 11497103 | 100037941 | 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 | 2018-11-24 | 3)receiveddate | 2018-12-17 | 2018-11-24 | null | 0 | null | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 100079776 | 10329056 | 100037942 | 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 | 2016-05-07 | 1)authoriseddate | 2016-05-29 | 2016-05-07 | null | 0 | null | Pyrosequencing | Leeds (molecular lab) |
| 100079777 | 11122073 | 100037943 | 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 | 2017-11-29 | 1)authoriseddate | 2017-12-07 | 2017-11-29 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Manchester (molecular lab) |
| 100079778 | 10634758 | 100037944 | 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.38_39delinsTG | c.38_39delinsTG | 2018-03-10 | 1)authoriseddate | 2018-03-13 | 2018-03-10 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100079779 | 11560082 | 100037945 | 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 | 2019-10-10 | 1)authoriseddate | 2019-09-18 | 2020-05-31 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 100079780 | 11806969 | 100037946 | 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 | 2016-05-10 | 1)authoriseddate | 2017-02-03 | 2016-05-10 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100079781 | 11911078 | 100037947 | 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 | 2016-09-13 | 1)authoriseddate | 2016-09-14 | 2016-09-13 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 100079783 | 11993456 | 100037949 | 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 | 2018-11-27 | 1)authoriseddate | 2018-11-04 | 2018-11-27 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 100079784 | 10631503 | 100037950 | 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 | 2019-09-04 | 1)authoriseddate | 2019-08-31 | 2019-09-04 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100079785 | 11538786 | 100037951 | 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 | 2019-09-24 | 1)authoriseddate | 2019-09-30 | 2019-09-24 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 100079786 | 11574769 | 100037952 | 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 | 2019-06-27 | 1)authoriseddate | 2019-06-15 | 2019-06-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 100079788 | 10356440 | 100037954 | 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 | 2016-05-21 | 1)authoriseddate | 2016-06-05 | 2016-05-21 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 100079790 | 11804000 | 100037956 | 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 | 2018-01-25 | 1)authoriseddate | 2018-01-05 | 2018-01-25 | p.(Gly12Val) | 1 | p.(Gly12Val) | Unknown | Birmingham (molecular lab) |
| 100079791 | 11940502 | 100037957 | 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 | 2018-04-30 | 1)authoriseddate | 2018-05-08 | 2018-04-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100079792 | 10046722 | 100037958 | KRAS | 47 | 1 | 1 | 1 | e:failed | e:failed | 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 | 2019-01-21 | 1)authoriseddate | 2018-10-16 | 2019-01-21 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100079793 | 11711763 | 100037959 | KRAS | 47 | 1 | 1 | 1 | e:failed | e:failed | 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 | 2019-12-21 | 4)collecteddate | 2020-01-13 | 2019-12-21 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 100079794 | 10037761 | 100037960 | 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 | 2018-01-30 | 1)authoriseddate | 2018-01-19 | 2018-01-30 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 100079795 | 11837028 | 100037961 | 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 | 2018-08-11 | 1)authoriseddate | 2018-08-22 | 2018-08-11 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100079796 | 10926516 | 100037962 | 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 | 2018-05-09 | 1)authoriseddate | 2018-04-20 | 2018-05-09 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100079797 | 11919586 | 100037963 | 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 | 2017-03-12 | 1)authoriseddate | 2017-03-12 | 2017-03-12 | (p.Gly12Asp) | 1 | (p.Gly12Asp) | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 100079798 | 11369502 | 100037964 | 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 | 2017-02-14 | 1)authoriseddate | 2017-02-25 | 2017-02-14 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100079799 | 11033988 | 100037965 | 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 | 2019-10-13 | 1)authoriseddate | 2019-09-27 | 2020-04-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100079800 | 11868930 | 100037966 | 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>C | c.34G>C | 2016-07-20 | 1)authoriseddate | 2016-08-18 | 2016-08-04 | p.Gln61His | 1 | p.Gln61His | Pyrosequencing | Birmingham (molecular lab) |
| 100079801 | 10203139 | 100037967 | 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 | 2017-07-14 | 1)authoriseddate | 2017-07-07 | 2017-07-14 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 100079802 | 11688261 | 100037968 | 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 | 2017-03-07 | 1)authoriseddate | 2017-02-27 | 2017-03-07 | null | 0 | null | Other | Royal Marsden (molecular lab) |
| 100079803 | 11811048 | 100037969 | 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 | 2017-12-26 | 1)authoriseddate | 2017-11-17 | 2017-12-26 | p.(Gly12Val) | 1 | p.(Gly12Val) | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |