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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 230006208 | 10786195 | 230001509 | BRCA1 | 7 | 1 | 1 | 1 | null | g:unknown/null | 0 | null | null | null | null | null | null | 0 | null | null | 2019-04-11 | 1)authoriseddate | 2019-05-10 | null | null | 0 | null | Sequencing, Next Generation (NGS) | null |
| 130019415 | 11303264 | 130019415 | NRAS | 56 | 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 | 2017-10-22 | 3)receiveddate | 2017-10-20 | 2017-10-22 | null | 0 | null | Sequencing, Next Generation (NGS) | Pathology lab |
| 130147936 | 11948500 | 130018093 | PIK3CA | 60 | 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.1637A>G | c.1637A>G | 2016-10-05 | 1)authoriseddate | 2016-10-12 | 2016-10-05 | p.(Asn345Lys),p.(His1047Arg) | 2 | multiple | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 200009500 | 11362944 | 200004095 | BRAF | 6 | 1 | 1 | 1 | a:abnormal | a:abnormal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 1 | c.1798_1799delinsAA | c.1798_1799delinsAA | 2016-08-16 | 1)authoriseddate | 2016-07-30 | 2016-08-16 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130019367 | 10182114 | 130019367 | NRAS | 56 | 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 | 2019-02-14 | 1)authoriseddate | 2019-02-13 | 2019-02-14 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130147937 | 11582438 | 130018095 | PIK3CA | 60 | 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 | 2019-05-30 | 1)authoriseddate | 2018-07-02 | 2019-05-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147938 | 11083440 | 130018098 | PIK3CA | 60 | 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 | 2019-07-22 | 1)authoriseddate | 2019-08-16 | 2019-07-22 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 200009519 | 11587488 | 200004115 | BRAF | 6 | 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 | 2 | c.1799T>A,c.1799T>A | multiple | 2017-01-30 | 1)authoriseddate | 2016-06-06 | 2017-01-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130147941 | 11754192 | 130018104 | PIK3CA | 60 | 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 | 2019-08-12 | 1)authoriseddate | 2019-09-05 | 2019-08-12 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 220008218 | 11850781 | 220001641 | MGMT | 51 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | c:borderline_a_methyl | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-05-25 | 3)receiveddate | 2018-02-15 | 2018-05-25 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 230006213 | 10179999 | 230001515 | BRCA1 | 7 | 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 | 1 | c.4868C>G | c.4868C>G | 2019-10-14 | 1)authoriseddate | null | 2019-10-14 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 220008219 | 10510795 | 220001642 | H3F3A | 35 | 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 | 2016-08-23 | 1)authoriseddate | 2016-06-12 | 2016-08-23 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 230006221 | 10297736 | 230001527 | BRCA1 | 7 | 1 | 1 | 1 | null | g:unknown/null | 0 | null | null | null | null | null | null | 0 | null | null | 2019-02-09 | null | 2019-03-10 | 2019-02-09 | null | 0 | null | Sequencing, Next Generation (NGS) | null |
| 130116693 | 11548370 | 130005070 | MSH6 | 2808 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | b:normal_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-01-28 | 1)authoriseddate | 2019-02-25 | 2019-01-28 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130116694 | 11675923 | 130005071 | MSH6 | 2808 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | b:normal_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-06-30 | 1)authoriseddate | 2019-05-12 | 2019-06-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130116699 | 10674056 | 130005080 | MSH6 | 2808 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | b:normal_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-01-30 | 1)authoriseddate | 2019-02-25 | 2019-01-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 220011518 | 10758424 | 220001266 | BRAF | 6 | 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 | 2019-10-19 | 1)authoriseddate | 2019-10-31 | 2019-10-19 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130116704 | 11178388 | 130005086 | 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 | 2019-02-21 | 1)authoriseddate | 2019-03-15 | 2019-02-21 | p.Gly12Asp | 1 | p.Gly12Asp | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130019383 | 11392803 | 130019383 | NRAS | 56 | 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 | 2016-01-31 | 2)requesteddate | 2016-02-22 | 2016-01-31 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130116709 | 10271632 | 130005092 | 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 | 2019-09-07 | 1)authoriseddate | 2019-10-01 | 2019-09-07 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130147948 | 11856650 | 130018118 | PIK3CA | 60 | 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 | 2018-04-08 | 1)authoriseddate | 2018-02-05 | 2018-04-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147949 | 11987276 | 130018119 | PIK3CA | 60 | 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 | 2018-12-09 | 1)authoriseddate | 2018-07-18 | 2019-01-22 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130116712 | 11416720 | 130005097 | 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 | 2018-01-23 | 3)receiveddate | 2018-02-08 | 2018-01-23 | p.(Ala146Thr) | 1 | p.(Ala146Thr) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130147952 | 10555899 | 130018126 | PIK3CA | 60 | 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 | 2019-10-29 | 2019-10-04 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130116715 | 11164849 | 130005105 | 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 | 2016-11-11 | 1)authoriseddate | 2016-11-12 | 2016-11-11 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130147953 | 11671709 | 130018127 | PIK3CA | 60 | 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.3140A>G | c.3140A>G | 2018-09-08 | 1)authoriseddate | 2018-05-19 | 2018-09-08 | p.(His1047Arg) | 1 | p.(His1047Arg) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 230007460 | 11799955 | 230000687 | MLH1 | 2744 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | b:normal_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-11-11 | 3)receiveddate | 2019-11-28 | 2019-11-11 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130019377 | 10433295 | 130019377 | NRAS | 56 | 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 | 2016-04-15 | 2)requesteddate | 2016-04-15 | 2016-04-15 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 200009553 | 10767630 | 200004153 | BRAF | 6 | 1 | 3 | 1 | b:normal,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 | 2019-05-20 | 1)authoriseddate | 2019-06-15 | 2019-05-20 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 200009556 | 11811607 | 200004156 | BRAF | 6 | 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 | 2017-07-04 | 1)authoriseddate | 2017-08-02 | 2017-09-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 200009561 | 10141906 | 200004163 | BRAF | 6 | 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.1798_1799delinsAA | c.1798_1799delinsAA | 2018-09-16 | 1)authoriseddate | 2018-10-08 | 2018-09-16 | p.(Val600Lys) | 1 | p.(Val600Lys) | Sequencing, Next Generation (NGS) | Sheffield (molecular lab) |
| 200009563 | 10705081 | 200004165 | BRAF | 6 | 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 | 2017-04-02 | 1)authoriseddate | 2017-04-25 | 2017-04-02 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130147955 | 10378431 | 130018129 | PIK3CA | 60 | 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 | 2016-11-12 | 1)authoriseddate | 2016-12-05 | 2016-11-12 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130116735 | 11591623 | 130005132 | 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 | 2018-06-19 | 1)authoriseddate | 2018-06-06 | 2018-06-19 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130147956 | 11418109 | 130018131 | PIK3CA | 60 | 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 | 2018-01-18 | 2018-02-13 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147958 | 11543453 | 130018134 | PIK3CA | 60 | 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.1624G>A | c.1624G>A | 2019-08-14 | 1)authoriseddate | 2019-05-01 | 2019-08-14 | p.(Glu542Lys) | 1 | p.(Glu542Lys) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 230006223 | 11552853 | 230001529 | BRCA1 | 7 | 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 | 2018-05-25 | null | 2018-06-10 | null | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130103855 | 10720613 | 130015101 | MSH2 | 2804 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | b:normal_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-06-26 | 1)authoriseddate | 2018-07-23 | 2018-06-26 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 200009571 | 10947267 | 200004174 | BRAF | 6 | 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.1799T>A | c.1799T>A | 2016-06-25 | 1)authoriseddate | 2016-06-30 | 2016-06-25 | p.(Val600Glu) | 1 | p.(Val600Glu) | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130116749 | 11277999 | 130005149 | 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 | 2016-02-10 | 1)authoriseddate | 2016-03-11 | 2016-02-10 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130116750 | 11050409 | 130005151 | 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 | 2019-01-05 | 1)authoriseddate | 2019-02-04 | 2019-01-25 | p.G13D | 1 | p.G13D | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 200009576 | 10271447 | 200004179 | BRAF | 6 | 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 | 2017-09-26 | 1)authoriseddate | 2017-10-02 | 2017-10-02 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220008220 | 10220628 | 220001643 | BRAF | 6 | 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 | 2017-01-22 | 1)authoriseddate | 2017-02-17 | 2017-01-22 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130116764 | 11934484 | 130005174 | KRAS | 47 | 2 | 2 | 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 | 2019-01-17 | 3)receiveddate | 2019-01-09 | 2019-01-17 | p.(Ala146Thr) | 1 | p.(Ala146Thr) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130116767 | 11581065 | 130005177 | 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 | 2019-11-26 | 1)authoriseddate | 2019-12-18 | 2019-11-26 | null | 0 | null | Sequencing, Next Generation (NGS) | Newcastle (molecular lab) |
| 130116776 | 11681309 | 130005187 | 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 | 2017-08-08 | 1)authoriseddate | 2017-07-29 | 2017-08-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Newcastle (molecular lab) |
| 130116778 | 10528091 | 130005190 | 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 | 2018-02-18 | 1)authoriseddate | 2018-02-10 | 2018-02-18 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 230007020 | 10938957 | 230000073 | MLH1 | 2744 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | n:not_applicable_null | n:not_applicable_null | aa:abnormal_under_exp | n:not_applicable_null | n:not_applicable_null | under_exp | 0 | null | null | 2019-06-15 | 1)authoriseddate | 2019-06-24 | 2019-06-15 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130116782 | 10954523 | 130005202 | 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 | 2019-01-29 | 1)authoriseddate | 2019-02-06 | 2019-01-29 | p.Gly13Asp | 1 | p.Gly13Asp | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130116783 | 11853373 | 130005203 | 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 | 2016-03-02 | 1)authoriseddate | 2016-02-25 | 2016-03-02 | p.Q61H | 1 | p.Q61H | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |