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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130147893 | 11090151 | 130017963 | 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 | 2018-07-09 | 1)authoriseddate | 2018-08-03 | 2018-07-09 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130147895 | 10989673 | 130017970 | 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 | 2019-06-03 | 1)authoriseddate | 2019-02-20 | 2019-06-03 | null | 0 | null | Other | Manchester (molecular lab) |
| 130147897 | 11175404 | 130017975 | 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 | 2019-12-01 | 1)authoriseddate | 2019-12-22 | 2019-12-01 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147898 | 11463888 | 130017983 | 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 | 2019-07-05 | 1)authoriseddate | 2019-06-12 | 2019-07-05 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147899 | 10374871 | 130017987 | 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 | 2018-03-05 | 1)authoriseddate | 2017-06-04 | 2018-03-05 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130147908 | 10157542 | 130018044 | 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 | 2019-10-09 | 1)authoriseddate | 2019-10-14 | 2019-10-09 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130147910 | 10438510 | 130018047 | 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 | 2016-07-08 | 1)authoriseddate | 2016-08-06 | 2016-07-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147913 | 10864540 | 130018052 | 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 | 2019-11-28 | 1)authoriseddate | 2019-12-15 | 2019-11-28 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147914 | 11969212 | 130018053 | 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 | 2019-12-30 | 1)authoriseddate | 2019-08-12 | 2019-12-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147916 | 10565416 | 130018055 | 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 | 2019-03-15 | 1)authoriseddate | 2019-03-26 | 2019-03-15 | null | 0 | null | Other | Manchester (molecular lab) |
| 130147917 | 10523306 | 130018059 | 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 | 2018-02-16 | 1)authoriseddate | 2018-02-10 | 2018-02-16 | null | 0 | null | Other | Royal Marsden (molecular lab) |
| 130147918 | 10376297 | 130018060 | 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.1624G>A | c.1624G>A | 2018-08-05 | 3)receiveddate | 2018-08-24 | 2018-08-05 | p.(Glu542Lys) | 1 | p.(Glu542Lys) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147921 | 10706309 | 130018065 | 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 | 2019-10-22 | 1)authoriseddate | 2019-07-07 | 2019-10-22 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147923 | 10909141 | 130018068 | 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 | 2019-05-03 | 1)authoriseddate | 2019-04-26 | 2019-05-03 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147925 | 11906624 | 130018075 | 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 | 2019-11-18 | 1)authoriseddate | 2019-05-18 | 2019-11-18 | null | 0 | null | Other | Manchester (molecular lab) |
| 130147926 | 11540647 | 130018078 | PIK3CA | 60 | 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 | 2017-07-07 | 1)authoriseddate | 2016-09-13 | 2017-07-09 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147928 | 10927667 | 130018080 | 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 | 2016-05-03 | 1)authoriseddate | 2016-05-26 | 2016-05-03 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147929 | 11338259 | 130018081 | 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 | 2017-09-29 | 1)authoriseddate | 2017-10-26 | 2017-09-29 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130147930 | 10086981 | 130018083 | 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 | 2018-03-14 | 1)authoriseddate | 2017-09-18 | 2018-03-14 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147931 | 11037152 | 130018084 | 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 | 2018-05-30 | 1)authoriseddate | 2018-06-05 | 2018-05-30 | null | 0 | null | Other | Manchester (molecular lab) |
| 130147933 | 10842387 | 130018089 | PIK3CA | 60 | 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 | 2018-07-16 | 1)authoriseddate | 2018-05-06 | 2018-07-16 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147934 | 11351439 | 130018091 | PIK3CA | 60 | 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 | 2019-07-26 | 1)authoriseddate | 2018-12-08 | 2019-07-26 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130147935 | 10148926 | 130018092 | 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 | 2019-07-21 | 1)authoriseddate | 2017-01-27 | 2019-07-21 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular 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) |
| 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) |
| 130147939 | 10272165 | 130018100 | 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 | 2018-10-14 | 1)authoriseddate | 2018-01-21 | 2018-10-14 | null | 0 | null | Real-Time / Quantitative PCR (qPCR) | Royal Marsden (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) |
| 130147945 | 10981214 | 130018114 | PIK3CA | 60 | 2 | 2 | 2 | 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.3140A>G | c.3140A>G | 2019-08-14 | 1)authoriseddate | 2019-06-02 | 2019-08-14 | p.(His1047Arg) | 1 | p.(His1047Arg) | Other | Manchester (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) |
| 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) |
| 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) |
| 130147954 | 10789388 | 130018128 | PIK3CA | 60 | 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 | 2019-07-19 | 1)authoriseddate | 2019-06-18 | 2019-07-19 | null | 0 | null | Other | Manchester (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) |
| 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) |
| 130154288 | 11305512 | 130017054 | 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 | 2019-08-16 | 1)authoriseddate | 2019-04-30 | 2019-08-16 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130154296 | 10255990 | 130017140 | 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 | 2019-04-09 | 1)authoriseddate | 2018-11-13 | 2019-04-09 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130154298 | 11292121 | 130017148 | 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 | 2018-05-05 | 1)authoriseddate | 2018-05-27 | 2018-05-05 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130154300 | 10858058 | 130017166 | 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 | 2019-05-31 | 1)authoriseddate | 2019-06-03 | 2019-05-31 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130154306 | 10065824 | 130017232 | 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.1633G>A | c.1633G>A | 2019-01-25 | 1)authoriseddate | 2019-01-30 | 2019-01-25 | p.(Glu545Lys) | 1 | p.(Glu545Lys) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130154310 | 10109833 | 130017263 | 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 | 2018-10-13 | 1)authoriseddate | 2018-09-06 | 2018-10-13 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130154326 | 10378359 | 130017398 | 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.1633G>A | c.1633G>A | 2017-04-23 | 1)authoriseddate | 2017-04-30 | 2017-04-23 | p.(Glu545Lys) | 1 | p.(Glu545Lys) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130154328 | 11232649 | 130017426 | 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 | 2019-03-30 | 1)authoriseddate | 2019-03-21 | 2019-03-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130154330 | 11891349 | 130017430 | PIK3CA | 60 | 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 | 2018-12-17 | 1)authoriseddate | 2019-01-08 | 2018-12-17 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130154333 | 10819790 | 130017441 | 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.3140A>T | c.3140A>T | 2019-06-19 | 1)authoriseddate | 2019-03-10 | 2019-06-19 | p.(Arg88Gln) | 1 | p.(Arg88Gln) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130154338 | 11720079 | 130017472 | 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 | 2017-09-01 | 1)authoriseddate | 2017-09-01 | 2017-09-01 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130154339 | 10249577 | 130017494 | 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 | 2018-11-20 | 1)authoriseddate | 2017-04-12 | 2018-11-20 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130154340 | 11186108 | 130017498 | 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>T | c.3140A>T | 2019-12-12 | 1)authoriseddate | 2019-10-30 | 2019-12-31 | p.(Glu81Lys) | 1 | p.(Glu81Lys) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |