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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130056303 | 11608024 | 130025559 | 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 | 2018-06-09 | 1)authoriseddate | 2018-06-27 | 2018-06-09 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130056304 | 11813470 | 130025560 | 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 | 2018-07-12 | 1)authoriseddate | 2017-05-20 | 2018-07-12 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130056305 | 11033981 | 130025561 | 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 | 2018-07-22 | 1)authoriseddate | 2018-06-30 | 2018-07-22 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130056306 | 11185594 | 130025562 | 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 | 2019-12-06 | 1)authoriseddate | 2019-10-04 | 2019-12-06 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130056308 | 10648138 | 130025564 | 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 | 2018-04-19 | 1)authoriseddate | 2018-02-18 | 2018-04-19 | p.(Glu545Lys) | 1 | p.(Glu545Lys) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130056309 | 10576824 | 130025565 | 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 | 2019-02-20 | 1)authoriseddate | 2019-03-06 | 2019-02-20 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130056312 | 11285065 | 130025568 | 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 | 2019-01-14 | 1)authoriseddate | 2019-01-16 | 2019-01-14 | p.(Glu545Lys) | 1 | p.(Glu545Lys) | Other | Manchester (molecular lab) |
| 130056313 | 10451773 | 130025569 | 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 | 2017-10-06 | 1)authoriseddate | 2017-10-27 | 2017-10-06 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130056314 | 11579347 | 130025570 | 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 | 2019-12-19 | 1)authoriseddate | 2020-01-15 | 2019-12-19 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130056299 | 10602473 | 130025555 | 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 | 2017-03-27 | 1)authoriseddate | 2017-04-24 | 2017-04-04 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130055958 | 10770027 | 130025204 | 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 | 2018-11-24 | 1)authoriseddate | 2018-11-30 | 2018-11-24 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055959 | 11812923 | 130025205 | 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 | 2019-08-27 | 1)authoriseddate | 2019-08-27 | 2019-08-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130055960 | 11433590 | 130025206 | 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 | 2019-10-17 | 1)authoriseddate | 2019-10-25 | 2019-10-17 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130055961 | 10723145 | 130025207 | 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 | 2 | c.1634A>G,c.1273G>A | multiple | 2019-04-03 | 1)authoriseddate | 2019-05-01 | 2019-04-03 | p.(His1047Leu) | 1 | p.(His1047Leu) | Roche COBAS | Royal Marsden (molecular lab) |
| 130055962 | 11448096 | 130025208 | 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 | 2019-02-01 | 1)authoriseddate | 2019-02-28 | 2019-02-01 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055963 | 11895434 | 130025209 | 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 | 2018-01-08 | 1)authoriseddate | 2018-01-19 | 2018-01-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055966 | 11192580 | 130025212 | 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 | 2019-07-20 | 1)authoriseddate | 2019-08-14 | 2019-07-20 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055967 | 10894690 | 130025214 | 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 | 2016-12-10 | 1)authoriseddate | 2017-01-06 | 2016-12-10 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055968 | 11436433 | 130025215 | 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 | 2017-01-15 | 1)authoriseddate | 2017-02-02 | 2017-01-15 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055969 | 11877708 | 130025216 | 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 | 2019-08-24 | 1)authoriseddate | 2019-05-17 | 2019-08-24 | p.(His1047Arg) | 1 | p.(His1047Arg) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130055971 | 11761692 | 130025218 | 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 | 2019-06-26 | 1)authoriseddate | 2019-07-23 | 2019-06-26 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055972 | 10285795 | 130025219 | 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 | 2016-12-11 | 1)authoriseddate | 2017-01-01 | 2017-01-18 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055973 | 11044690 | 130025220 | 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 | 2018-01-14 | 1)authoriseddate | 2018-02-08 | 2018-01-14 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055974 | 10934213 | 130025221 | 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 | 2018-08-27 | 1)authoriseddate | 2018-09-22 | 2018-08-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055975 | 10966601 | 130025222 | 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.1636C>G | c.1636C>G | 2017-06-19 | 1)authoriseddate | 2017-07-08 | 2017-06-19 | p.(Glu545Ala) | 1 | p.(Glu545Ala) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055976 | 10648048 | 130025223 | 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 | 2018-09-08 | 1)authoriseddate | 2018-12-20 | 2018-09-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055978 | 11169422 | 130025225 | 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 | 2017-02-13 | 1)authoriseddate | 2017-05-08 | 2017-02-13 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055979 | 10756794 | 130025226 | 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 | 2018-12-04 | 1)authoriseddate | 2018-12-24 | 2018-12-04 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055980 | 10115859 | 130025227 | 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 | 2019-06-28 | 1)authoriseddate | 2019-07-17 | 2019-06-28 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055981 | 11870185 | 130025228 | 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 | 2016-11-28 | 1)authoriseddate | 2016-12-25 | 2016-11-28 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055982 | 11491765 | 130025229 | 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 | 2017-11-08 | 1)authoriseddate | 2017-09-23 | 2017-11-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055984 | 11057077 | 130025231 | 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.1634A>C | c.1634A>C | 2019-09-06 | 1)authoriseddate | 2019-09-19 | 2019-09-06 | p.(Gly1049Arg) | 1 | p.(Gly1049Arg) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055985 | 11198550 | 130025232 | 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 | 2016-03-27 | 1)authoriseddate | 2016-04-02 | 2016-03-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055987 | 10107663 | 130025234 | 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 | 2017-08-16 | 1)authoriseddate | 2017-09-11 | 2017-08-16 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055988 | 11118115 | 130025235 | 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 | 2016-12-31 | 1)authoriseddate | 2017-01-03 | 2017-01-03 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055989 | 11714713 | 130025236 | 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 | 2017-08-11 | 1)authoriseddate | 2017-09-07 | 2017-08-11 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055990 | 10627624 | 130025237 | 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 | 2019-09-19 | 1)authoriseddate | 2019-10-10 | 2019-09-19 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055992 | 11539008 | 130025240 | 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 | 2017-05-07 | 1)authoriseddate | 2017-06-03 | 2017-05-07 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055995 | 11247906 | 130025243 | 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 | 2019-04-18 | 1)authoriseddate | 2019-05-11 | 2019-08-18 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055996 | 11751273 | 130025244 | 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 | 2018-01-13 | 1)authoriseddate | 2018-02-07 | 2018-01-13 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130055997 | 11050445 | 130025245 | 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 | 2018-05-26 | 1)authoriseddate | 2018-05-21 | 2018-05-26 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055998 | 11432750 | 130025246 | 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 | 2019-03-13 | 1)authoriseddate | 2019-03-31 | 2019-03-13 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130055999 | 10725043 | 130025247 | 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 | 2019-03-31 | 1)authoriseddate | 2019-02-22 | 2019-03-31 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130056001 | 10065947 | 130025249 | 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 | 2019-08-01 | 1)authoriseddate | 2019-08-09 | 2019-08-01 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130056002 | 10488093 | 130025251 | 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 | 2018-11-02 | 1)authoriseddate | 2018-11-28 | 2018-11-02 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130056004 | 11200927 | 130025253 | 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 | 2018-11-21 | 3)receiveddate | 2018-12-17 | 2018-11-21 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130056006 | 10190267 | 130025255 | PIK3CA | 60 | 5 | 5 | 5 | e:failed,b:normal,b:normal,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 | 2018-02-10 | 1)authoriseddate | 2018-02-24 | 2018-02-10 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130056007 | 11430532 | 130025256 | 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 | 2018-04-07 | 1)authoriseddate | 2018-04-30 | 2018-04-07 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130056008 | 11707202 | 130025257 | 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 | 2018-09-14 | 1)authoriseddate | 2018-10-09 | 2018-09-14 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130056009 | 11229985 | 130025258 | 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 | 2017-07-13 | 1)authoriseddate | 2017-06-10 | 2017-07-13 | p.(Glu545Lys) | 1 | p.(Glu545Lys) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |