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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130045927 | 10289499 | 130014892 | 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 | 2019-07-28 | 1)authoriseddate | 2019-08-02 | 2019-07-28 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130045928 | 10959169 | 130014893 | 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 | 2018-07-07 | 3)receiveddate | 2018-06-28 | 2018-07-07 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130045929 | 11187930 | 130014894 | 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 | 2019-10-04 | 1)authoriseddate | 2019-10-27 | 2019-10-04 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 130045930 | 11228701 | 130014895 | 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 | 2017-06-03 | 1)authoriseddate | 2017-06-27 | 2017-06-03 | null | 0 | null | Pyrosequencing | Exeter (molecular lab) |
| 130045931 | 10616488 | 130014896 | 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 | 2016-05-19 | 1)authoriseddate | 2016-06-17 | 2016-05-19 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |
| 130045932 | 10285341 | 130014897 | 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 | 2019-08-09 | 3)receiveddate | 2019-09-07 | 2019-08-09 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130045933 | 10969273 | 130014898 | 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 | 2019-06-21 | 3)receiveddate | 2019-07-08 | 2019-06-21 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130045934 | 10627258 | 130014899 | 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 | 2017-09-23 | 1)authoriseddate | 2017-09-07 | 2017-09-23 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130045935 | 11884479 | 130014900 | 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 | 2018-06-07 | 3)receiveddate | 2018-05-12 | 2018-06-07 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130045936 | 10570477 | 130014901 | 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 | 2019-07-30 | 1)authoriseddate | 2019-08-21 | 2019-07-30 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130045937 | 11583762 | 130014902 | 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 | 2019-08-14 | 1)authoriseddate | 2019-08-29 | 2019-08-14 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130045938 | 11364730 | 130014903 | 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 | 2017-05-13 | 1)authoriseddate | 2017-04-19 | 2017-05-13 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130045939 | 11817095 | 130014904 | 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 | 2017-12-20 | 3)receiveddate | 2017-12-15 | 2017-12-20 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130045940 | 10831220 | 130014905 | 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 | 2019-02-13 | 3)receiveddate | 2019-03-11 | 2019-02-13 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130045941 | 10963185 | 130014906 | 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 | 2017-04-02 | 3)receiveddate | 2017-04-21 | 2017-04-02 | p.(Ala146Thr) | 1 | p.(Ala146Thr) | Pyrosequencing | Birmingham (molecular lab) |
| 130045942 | 10650657 | 130014907 | 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 | 2019-02-03 | 3)receiveddate | 2019-02-18 | 2019-02-03 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130045943 | 10069934 | 130014908 | 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 | 3)receiveddate | 2018-05-16 | 2018-05-09 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130045944 | 11904542 | 130014909 | 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 | 2016-06-16 | 1)authoriseddate | 2016-07-14 | 2016-06-16 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130045945 | 11384760 | 130014910 | 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 | 2018-11-24 | 1)authoriseddate | 2018-12-19 | 2018-11-24 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 130045946 | 11831000 | 130014911 | 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 | 3)receiveddate | 2017-09-29 | 2017-11-05 | null | 0 | null | Unknown | Birmingham (molecular lab) |
| 130045947 | 11167208 | 130014912 | KRAS | 47 | 1 | 2 | 1 | b:normal,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 | 2019-05-26 | 3)receiveddate | 2019-05-20 | 2019-05-26 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130045948 | 11515775 | 130014913 | 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 | 2019-11-20 | 1)authoriseddate | 2017-08-18 | 2019-11-20 | null | 0 | null | Unknown | Birmingham (molecular lab) |
| 130045949 | 11251482 | 130014914 | 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 | 2016-07-20 | 1)authoriseddate | 2016-08-03 | 2016-07-21 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Exeter (molecular lab) |
| 130045950 | 11973515 | 130014915 | 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 | 2019-12-07 | 1)authoriseddate | 2019-12-26 | 2019-12-07 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130045951 | 10582309 | 130014916 | 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 | 2017-07-21 | 3)receiveddate | 2017-05-16 | 2017-07-21 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130045952 | 10054331 | 130014917 | 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 | 2019-07-30 | 1)authoriseddate | 2019-08-03 | 2019-07-30 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130045953 | 10659205 | 130014918 | 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 | 2019-08-06 | 3)receiveddate | 2019-08-15 | 2019-08-06 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130045954 | 11034690 | 130014919 | 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 | 3)receiveddate | 2017-07-24 | 2017-07-05 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130045955 | 10646852 | 130014920 | 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 | 2019-03-02 | 3)receiveddate | 2018-12-06 | 2019-03-02 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130045956 | 10766095 | 130014921 | 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 | 3)receiveddate | 2019-08-25 | 2019-09-02 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130045957 | 11666671 | 130014922 | 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 | 2017-11-14 | 1)authoriseddate | 2017-12-13 | 2017-11-14 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130045958 | 10590208 | 130014923 | 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 | 2017-01-03 | 1)authoriseddate | 2016-09-15 | 2017-01-03 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130045959 | 11737084 | 130014924 | 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 | 2018-12-05 | 1)authoriseddate | 2019-01-04 | 2018-12-05 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 130045960 | 10976231 | 130014925 | 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 | 2019-09-14 | 3)receiveddate | 2019-10-13 | 2019-09-14 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 130045961 | 11351305 | 130014926 | 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 | 2019-07-30 | 1)authoriseddate | 2019-08-13 | 2019-07-30 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130045962 | 11705642 | 130014927 | 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 | 2018-01-23 | 3)receiveddate | 2018-02-21 | 2018-01-23 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130045963 | 10325490 | 130014928 | 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 | 2017-12-25 | 1)authoriseddate | 2018-01-06 | 2017-12-25 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130045964 | 11490849 | 130014929 | 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 | 2018-08-09 | 2018-08-16 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130045965 | 11034213 | 130014930 | 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 | 2019-04-21 | 1)authoriseddate | 2018-12-26 | 2019-04-21 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130045966 | 10101050 | 130014931 | 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 | 2019-04-20 | 3)receiveddate | 2019-05-07 | 2019-04-20 | p.Gly12Cys | 1 | p.Gly12Cys | Pyrosequencing | Birmingham (molecular lab) |
| 130045967 | 11179147 | 130014932 | 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 | 2019-03-13 | 1)authoriseddate | 2019-04-09 | 2019-03-13 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130045968 | 10521965 | 130014933 | 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 | 2018-11-23 | 1)authoriseddate | 2018-11-03 | 2018-11-23 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130045969 | 11863493 | 130014934 | 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 | 2019-01-22 | 1)authoriseddate | 2018-12-28 | 2019-01-22 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130045970 | 11186286 | 130014935 | 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 | 2018-02-09 | 1)authoriseddate | 2018-02-22 | 2018-02-09 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130045971 | 10275528 | 130014936 | 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 | 2018-10-06 | 1)authoriseddate | 2018-09-20 | 2018-10-06 | null | 0 | null | Unknown | Birmingham (molecular lab) |
| 130045972 | 11585514 | 130014937 | 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 | 2019-09-03 | 3)receiveddate | 2019-10-01 | 2019-09-03 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130045973 | 10489725 | 130014938 | 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 | 2019-08-17 | 1)authoriseddate | 2019-08-29 | 2019-08-17 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Cambridge (molecular lab) |
| 130045974 | 10122087 | 130014939 | 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 | 2017-02-12 | 1)authoriseddate | 2016-10-12 | 2017-02-12 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130045975 | 10139254 | 130014940 | 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 | 2019-02-01 | 1)authoriseddate | 2019-02-24 | 2019-02-01 | p.(Ala146Thr) | 1 | p.(Ala146Thr) | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 130045976 | 11724418 | 130014941 | 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 | 2018-12-01 | 1)authoriseddate | 2018-12-12 | 2018-12-01 | p.Gly12Ala | 1 | p.Gly12Ala | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |