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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 220002303 | 10061572 | 220002303 | TERT | 77 | 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 | 1 | c.-146C>T | c.-146C>T | 2018-01-18 | null | 2018-02-02 | 2018-01-18 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220002305 | 10422868 | 220002305 | TERT | 77 | 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 | 2019-08-02 | 1)authoriseddate | 2019-08-05 | 2019-08-02 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220002306 | 10610316 | 220002306 | TERT | 77 | 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.-124C>T | c.-124C>T | 2019-06-22 | 1)authoriseddate | 2019-07-18 | 2021-09-11 | p.Arg172Lys | 1 | p.Arg172Lys | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 220001338 | 11835330 | 220001338 | TERT | 77 | 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 | 2017-07-10 | 1)authoriseddate | 2017-07-07 | 2017-07-10 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220001343 | 11328943 | 220001343 | TERT | 77 | 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 | 0 | null | null | 2018-07-12 | 3)receiveddate | 2018-07-12 | 2018-07-12 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 220001344 | 11860579 | 220001344 | TERT | 77 | 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 | 3)receiveddate | 2017-01-16 | 2017-01-15 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220001351 | 11244915 | 220001351 | TERT | 77 | 2 | 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 | 0 | null | null | 2018-01-05 | 2)requesteddate | 2018-01-07 | 2018-01-05 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220001358 | 11631948 | 220001358 | TERT | 77 | 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 | 0 | null | null | 2018-05-10 | 2)requesteddate | null | 2018-05-10 | p.R132H | 1 | p.R132H | Sequencing, Next Generation (NGS) | Bristol (molecular lab) |
| 220001363 | 11053404 | 220001363 | TERT | 77 | 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 | 0 | null | null | 2019-05-10 | 3)receiveddate | 2019-05-07 | 2019-05-10 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 220001365 | 10560669 | 220001365 | TERT | 77 | 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 | 2018-02-05 | 3)receiveddate | 2018-02-05 | 2018-02-05 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 220001368 | 10382956 | 220001368 | TERT | 77 | 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 | 2016-10-10 | 2)requesteddate | 2016-09-21 | 2016-10-10 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 220001369 | 11155997 | 220001369 | TERT | 77 | 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-.124C>T | c-.124C>T | 2019-07-04 | 1)authoriseddate | 2019-07-05 | 2019-07-04 | p.(Phe341Ter) | 1 | p.(Phe341Ter) | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 240000937 | 10381915 | 240000937 | TERT | 77 | 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 | 2018-11-06 | 1)authoriseddate | 2018-10-26 | 2018-11-06 | null | 0 | null | Multiple methods | Royal Marsden (molecular lab) |
| 220001378 | 10338599 | 220001378 | TERT | 77 | 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 | 0 | null | null | 2017-09-10 | 2)requesteddate | 2017-09-22 | 2017-09-10 | null | 0 | null | Sequencing, Next Generation (NGS) | null |
| 220001387 | 11325380 | 220001387 | TERT | 77 | 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 | 0 | null | null | 2017-07-25 | 2)requesteddate | 2017-07-23 | 2017-07-25 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 220001393 | 10309087 | 220001393 | TERT | 77 | 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 | 2016-02-22 | 2)requesteddate | 2016-02-23 | 2016-02-22 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 220001394 | 11943994 | 220001394 | TERT | 77 | 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.-146C>T | c.-146C>T | 2016-07-13 | null | null | 2016-07-13 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 220001422 | 11809616 | 220001422 | TERT | 77 | 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 | 0 | null | null | 2016-04-29 | 2)requesteddate | 2019-02-03 | 2016-04-29 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 220001442 | 11562834 | 220001442 | TERT | 77 | 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.-124C>T | c.-124C>T | 2016-08-13 | 1)authoriseddate | 2016-08-10 | 2016-08-13 | null | 0 | null | Sequencing, Next Generation (NGS) | Bristol (molecular lab) |
| 220002156 | 10153878 | 220002156 | TERT | 77 | 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 | 2017-03-23 | 2)requesteddate | 2017-04-05 | 2017-03-23 | null | 0 | null | Sequencing, Next Generation (NGS) | null |
| 220001309 | 10470559 | 220001309 | TERT | 77 | 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.-124C>T | c.-124C>T | 2019-09-02 | null | null | 2019-09-02 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220001457 | 10008069 | 220001457 | TERT | 77 | 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 | 0 | null | null | 2019-07-26 | 3)receiveddate | 2019-07-24 | 2019-07-26 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 220001459 | 10780364 | 220001459 | TERT | 77 | 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.-124C>T | c.-124C>T | 2016-07-30 | 1)authoriseddate | 2016-07-29 | 2016-07-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 220001465 | 11164937 | 220001465 | TERT | 77 | 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.-146C>T | c.-146C>T | 2017-03-03 | null | 2017-02-21 | 2017-03-03 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220001676 | 11086874 | 220001676 | TERT | 77 | 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 | 0 | null | null | 2019-01-31 | 3)receiveddate | 2019-02-02 | 2019-01-31 | null | 0 | null | Sequencing, Next Generation (NGS) | null |
| 220001689 | 11334310 | 220001689 | TERT | 77 | 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-.124C>T | c-.124C>T | 2018-06-29 | 1)authoriseddate | 2018-06-27 | 2018-06-29 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220001691 | 11634122 | 220001691 | TERT | 77 | 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.-124C>T | c.-124C>T | 2019-09-04 | 1)authoriseddate | 2019-09-06 | 2019-09-04 | p.(Val600Glu) | 1 | p.(Val600Glu) | Sequencing, Next Generation (NGS) | null |
| 220001511 | 11177909 | 220001511 | TERT | 77 | 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.-146C>T | c.-146C>T | 2017-12-28 | null | null | 2017-12-28 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220001512 | 11805216 | 220001512 | TERT | 77 | 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 | 2016-12-03 | 1)authoriseddate | 2017-01-01 | 2016-12-03 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 220001520 | 10984355 | 220001520 | TERT | 77 | 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.586C>T | c.586C>T | 2017-02-20 | null | 2017-01-18 | 2017-02-20 | null | 0 | null | Sequencing, Next Generation (NGS) | Nottingham (molecular lab) |
| 220001521 | 11727534 | 220001521 | TERT | 77 | 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 | 2016-01-27 | 1)authoriseddate | 2016-01-27 | 2016-01-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220001523 | 10879885 | 220001523 | TERT | 77 | 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.-124C>T | c.-124C>T | 2019-02-24 | 1)authoriseddate | 2019-02-27 | null | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 220001316 | 10180196 | 220001316 | TERT | 77 | 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.1-124C>T | c.1-124C>T | 2019-08-22 | null | null | 2019-08-22 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 220001526 | 10262538 | 220001526 | TERT | 77 | 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.-124C>T | c.-124C>T | 2017-07-02 | 1)authoriseddate | 2017-07-09 | null | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220001534 | 11065457 | 220001534 | TERT | 77 | 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.-124C>T | c.-124C>T | 2018-02-25 | 1)authoriseddate | 2016-11-21 | 2018-02-25 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220001543 | 10882367 | 220001543 | TERT | 77 | 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 | 2017-01-03 | 1)authoriseddate | 2017-01-07 | 2017-01-03 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 220001545 | 10740833 | 220001545 | TERT | 77 | 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.-124C>T | c.-124C>T | 2019-01-29 | 1)authoriseddate | null | 2019-01-29 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 220001549 | 11397212 | 220001549 | TERT | 77 | 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.1799T>A | c.1799T>A | 2019-03-31 | null | 2019-04-28 | 2019-03-31 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 220001559 | 11225058 | 220001559 | TERT | 77 | 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.-124C>T | c.-124C>T | 2018-01-19 | 1)authoriseddate | 2018-01-18 | 2018-01-19 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220001562 | 11862404 | 220001562 | TERT | 77 | 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.181C>A | c.181C>A | 2016-07-22 | null | 2016-08-16 | 2016-07-22 | null | 0 | null | Sequencing, Next Generation (NGS) | null |
| 220001568 | 10179773 | 220001568 | TERT | 77 | 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 | 0 | null | null | 2019-05-30 | 2)requesteddate | 2019-06-01 | 2019-05-30 | R132H | 1 | R132H | Sequencing, Next Generation (NGS) | null |
| 220001574 | 10324114 | 220001574 | TERT | 77 | 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 | 0 | null | null | 2019-02-06 | 1)authoriseddate | 2019-02-04 | 2019-02-06 | null | 0 | null | Sequencing, Next Generation (NGS) | null |
| 220001579 | 11635878 | 220001579 | TERT | 77 | 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.-124C>T | c.-124C>T | 2017-07-20 | null | 2017-07-16 | 2017-07-20 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220001582 | 10510610 | 220001582 | TERT | 77 | 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.-124C>T | c.-124C>T | 2019-02-21 | 1)authoriseddate | 2019-02-22 | 2019-02-21 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 220001583 | 11339697 | 220001583 | TERT | 77 | 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.-146C>T | c.-146C>T | 2019-11-19 | 1)authoriseddate | 2019-11-21 | 2019-11-19 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 220001585 | 10213333 | 220001585 | TERT | 77 | 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 | 2016-04-30 | 2)requesteddate | 2016-04-27 | 2016-04-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 220001587 | 10078633 | 220001587 | TERT | 77 | 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.-124C>T | c.-124C>T | 2018-10-22 | 1)authoriseddate | 2018-06-10 | 2018-10-22 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 220001588 | 10838099 | 220001588 | TERT | 77 | 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.1799T>A | c.1799T>A | 2019-05-19 | 2)requesteddate | 2019-06-17 | 2019-05-19 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220001589 | 10003851 | 220001589 | TERT | 77 | 1 | 1 | 1 | a:abnormal | a:abnormal | 0 | c:borderline_a_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-03-19 | 1)authoriseddate | 2018-03-15 | 2018-03-19 | null | 0 | null | Gene Expression testing / RT-PCR | Leeds (molecular lab) |
| 220002506 | 10003639 | 220002506 | TERT | 77 | 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.-146C>T | c.-146C>T | 2019-09-28 | 1)authoriseddate | 2019-10-02 | 2019-09-28 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |