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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130168031 | 10515995 | 130003603 | 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 | 2017-09-28 | 1)authoriseddate | 2017-10-19 | 2017-09-28 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130049519 | 11666374 | 130018543 | 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 | 2017-02-08 | 3)receiveddate | 2017-02-27 | 2017-02-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Bristol (molecular lab) |
| 130049566 | 10040391 | 130018591 | 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 | 2017-01-27 | 1)authoriseddate | 2017-01-30 | 2017-01-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130168043 | 11576712 | 130003654 | 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 | 2017-11-20 | 1)authoriseddate | 2017-10-17 | 2017-11-20 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130168299 | 10385967 | 130017560 | 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 | 2017-11-07 | 1)authoriseddate | 2017-10-22 | 2017-11-07 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130168302 | 10065270 | 130017601 | 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 | 2016-12-31 | 1)authoriseddate | 2017-01-15 | 2016-12-31 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130168303 | 10852945 | 130017604 | 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 | 2017-12-15 | 1)authoriseddate | 2018-01-01 | 2017-12-15 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130168304 | 11005252 | 130017613 | 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 | 2018-11-26 | 2018-11-20 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130168306 | 11532018 | 130017620 | 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 | 2019-11-12 | 1)authoriseddate | 2019-10-04 | 2019-11-12 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130168309 | 10245562 | 130017640 | 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 | 2019-11-07 | 1)authoriseddate | 2019-06-08 | 2019-11-07 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130168311 | 10126301 | 130017650 | 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 | 2016-11-28 | 1)authoriseddate | 2016-12-19 | 2016-11-28 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130168381 | 11773230 | 130022430 | TP53 | 79 | 1 | 2 | 1 | a:abnormal,e:failed | 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.559+2T>C | c.559+2T>C | 2019-11-16 | null | 2019-03-06 | null | p.(Arg249Gly) | 1 | p.(Arg249Gly) | Sequencing, Next Generation (NGS) | null |
| 130168466 | 10230418 | 130027597 | CDH1 | 794 | 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 | 2019-09-28 | 1)authoriseddate | 2019-08-02 | 2019-09-28 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130168551 | 10043234 | 130002418 | 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 | 2016-11-06 | 3)receiveddate | 2016-10-28 | 2016-11-06 | p.(Asp603Tyr) | 1 | p.(Asp603Tyr) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130168552 | 10408687 | 130002419 | 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 | 2017-12-18 | 1)authoriseddate | 2018-01-16 | 2017-12-18 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130168556 | 10383961 | 130002427 | 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 | 2019-08-26 | 1)authoriseddate | 2019-09-07 | 2019-08-26 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130168559 | 11192211 | 130002439 | 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 | 2016-08-13 | 1)authoriseddate | 2016-07-17 | 2016-08-13 | p.(Leu911Arg) | 1 | p.(Leu911Arg) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130168561 | 10078097 | 130002446 | 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 | 2 | c.1905delA ,c.2545delC | multiple | 2019-02-21 | 1)authoriseddate | 2019-03-21 | 2019-03-05 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130168596 | 11407902 | 130002511 | 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 | 2018-09-06 | 1)authoriseddate | 2018-10-01 | 2018-09-06 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130168598 | 11537936 | 130002517 | MSH6 | 2808 | 2 | 2 | 2 | b:normal,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 | 2019-01-02 | 1)authoriseddate | 2018-12-21 | 2019-01-02 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130168600 | 10000101 | 130002521 | 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 | 2019-03-28 | 1)authoriseddate | 2019-04-21 | 2019-03-28 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130168607 | 11514767 | 130002537 | MSH6 | 2808 | 1 | 1 | 1 | a:abnormal | a:abnormal | 0 | b:normal_dna_sq | n:not_applicable_null | b:normal_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-01-01 | 1)authoriseddate | 2019-01-30 | 2019-01-01 | p.(Phe1088SerfsTer2) | 1 | p.(Phe1088SerfsTer2) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130168622 | 10429593 | 130002587 | 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 | 2019-10-26 | 1)authoriseddate | 2019-10-18 | 2019-10-26 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130168624 | 11199684 | 130002590 | 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 | 1)authoriseddate | 2017-07-09 | 2017-07-05 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130168625 | 11566500 | 130002595 | 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 | 2017-03-03 | 1)authoriseddate | 2017-03-31 | 2017-03-03 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130168627 | 10086237 | 130002600 | 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 | 2019-06-12 | 1)authoriseddate | 2019-07-07 | 2019-06-12 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130168630 | 10318207 | 130002607 | 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 | 2018-07-10 | 1)authoriseddate | 2018-08-09 | 2018-07-10 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130168639 | 10536102 | 130002638 | 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.35G>A | c.35G>A | 2019-04-28 | 1)authoriseddate | 2019-05-26 | 2019-04-28 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130168640 | 10258143 | 130002640 | KRAS | 47 | 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 | 2016-09-25 | 1)authoriseddate | 2016-10-24 | 2016-09-25 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130168642 | 10747212 | 130002647 | 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.35G>A | c.35G>A | 2018-06-21 | 1)authoriseddate | 2018-07-14 | 2018-06-21 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130168648 | 11665363 | 130002660 | 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>A | c.34G>A | 2019-03-09 | 1)authoriseddate | 2019-03-14 | 2019-03-09 | p.Gly12Ser | 1 | p.Gly12Ser | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130168660 | 10588571 | 130002705 | 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 | 2019-06-18 | 1)authoriseddate | 2019-07-12 | 2019-06-18 | p.(Gly12Val) | 1 | p.(Gly12Val) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130168666 | 10209163 | 130002717 | 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 | 2016-12-28 | 1)authoriseddate | 2017-01-23 | 2016-12-28 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130168670 | 11673328 | 130002741 | 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 | 2019-05-01 | 1)authoriseddate | 2019-05-11 | 2020-07-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130168695 | 10299916 | 130002916 | 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 | 2019-07-31 | 1)authoriseddate | 2019-08-28 | 2019-07-31 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130168700 | 11456018 | 130003014 | 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 | 2016-06-21 | 1)authoriseddate | 2016-07-21 | 2016-06-21 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130168703 | 10067094 | 130003081 | 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 | 2018-06-05 | 1)authoriseddate | 2018-07-01 | 2018-06-05 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130168705 | 10648503 | 130003086 | 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 | 2018-08-06 | 1)authoriseddate | 2018-08-30 | 2018-08-06 | null | 0 | null | Sequencing, Next Generation (NGS) | Pathology lab |
| 130168716 | 10762371 | 130003258 | 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 | 2018-05-27 | 1)authoriseddate | 2018-06-16 | 2018-05-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130168717 | 10758202 | 130003259 | 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 | 2019-10-14 | 1)authoriseddate | 2019-11-11 | 2019-10-14 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130168728 | 10267167 | 130003363 | 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 | 2017-11-09 | 1)authoriseddate | 2017-10-21 | 2017-11-09 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130168733 | 10076330 | 130003410 | 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 | 2018-05-20 | 1)authoriseddate | 2018-06-15 | 2018-05-20 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130168734 | 10132448 | 130003413 | 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 | 2017-11-12 | 1)authoriseddate | 2017-09-28 | 2017-11-12 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130168735 | 11192396 | 130003436 | 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 | 2019-03-03 | 2)requesteddate | 2019-03-23 | 2019-03-03 | null | 0 | null | Sequencing, Next Generation (NGS) | Exeter (molecular lab) |
| 130168736 | 11642538 | 130003446 | NRAS | 56 | 2 | 2 | 2 | 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 | 2018-12-05 | 1)authoriseddate | 2018-12-28 | 2018-12-05 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130168741 | 10854741 | 130003501 | NRAS | 56 | 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 | 2019-07-11 | 2)requesteddate | 2019-06-11 | 2019-07-11 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130168958 | 10628340 | 130021006 | TP53 | 79 | 1 | 1 | 1 | null | g:unknown/null | 0 | null | null | null | null | null | null | 0 | null | null | 2018-06-02 | null | 2018-03-30 | null | null | 0 | null | Sequencing, Next Generation (NGS) | null |
| 130169062 | 11998850 | 130000536 | MLH1 | 2744 | 1 | 3 | 1 | b:normal,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 | 2019-02-02 | 1)authoriseddate | 2019-03-02 | 2019-02-02 | null | 0 | null | Sequencing, Next Generation (NGS) | Unknown |
| 130169066 | 10412683 | 130001982 | MLH1 | 2744 | 1 | 3 | 1 | b:normal,b:normal,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 | 2019-02-28 | 2019-01-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130169107 | 10589732 | 130002476 | 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 | 1 | c.1807G>T | c.1807G>T | 2019-06-28 | 1)authoriseddate | 2019-07-24 | 2020-06-18 | p.(Leu92SerfsTer7) | 1 | p.(Leu92SerfsTer7) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |