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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 200008590 | 10276949 | 200002356 | 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 | 2017-07-03 | 1)authoriseddate | 2017-02-15 | 2017-07-03 | null | 0 | null | Roche COBAS | Royal Marsden (molecular lab) |
| 200008591 | 11313433 | 200002357 | 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 | 2019-09-19 | 1)authoriseddate | 2019-10-18 | 2019-09-19 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing | Manchester (molecular lab) |
| 200008592 | 11754671 | 200002360 | 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 | 2019-10-25 | 1)authoriseddate | 2019-03-28 | 2019-12-04 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 200008593 | 11120392 | 200002362 | 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 | 2018-10-02 | 1)authoriseddate | 2018-10-26 | 2019-04-16 | null | 0 | null | Roche COBAS | Royal Marsden (molecular lab) |
| 200008594 | 10878731 | 200002363 | BRAF | 6 | 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 | 2019-10-24 | 3)receiveddate | 2019-10-03 | 2019-10-24 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Birmingham (molecular lab) |
| 200008595 | 10537176 | 200002364 | 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 | 0 | null | null | 2016-06-29 | 1)authoriseddate | 2016-05-15 | 2016-06-29 | p.V600X | 1 | p.V600X | Pyrosequencing | Manchester (molecular lab) |
| 200008596 | 11532652 | 200002368 | 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 | 2019-11-11 | 1)authoriseddate | 2019-11-02 | 2021-06-18 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200008597 | 10779768 | 200002371 | 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 | 0 | null | null | 2019-01-29 | 1)authoriseddate | 2019-02-04 | 2019-01-29 | p.V600X | 1 | p.V600X | Roche COBAS | Birmingham (molecular lab) |
| 200008598 | 11394660 | 200002372 | 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 | 0 | null | null | 2018-09-02 | 1)authoriseddate | 2018-09-22 | 2018-09-02 | null | 0 | null | SSCP | Royal Marsden (molecular lab) |
| 200008599 | 11690897 | 200002373 | BRAF | 6 | 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 | 2019-01-21 | 1)authoriseddate | 2019-01-06 | 2019-01-21 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200008600 | 10974642 | 200002378 | 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 | 0 | null | null | 2018-02-04 | 1)authoriseddate | 2017-10-14 | 2018-02-04 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200008601 | 11890070 | 200002383 | 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 | 2017-07-09 | 3)receiveddate | 2017-04-25 | 2017-07-09 | p.(Val600Lys) | 1 | p.(Val600Lys) | Roche COBAS | Birmingham (molecular lab) |
| 200008602 | 11698450 | 200002388 | 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 | 0 | null | null | 2016-07-01 | 1)authoriseddate | 2016-07-29 | 2016-07-01 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200008603 | 10327657 | 200002400 | BRAF | 6 | 1 | 2 | 1 | e:failed,e:failed | e:failed | 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 | 2018-06-07 | 1)authoriseddate | 2018-07-06 | 2018-06-07 | p.V600X | 1 | p.V600X | Roche COBAS | Royal Marsden (molecular lab) |
| 200008604 | 11465248 | 200002401 | BRAF | 6 | 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 | 2018-09-13 | 1)authoriseddate | 2018-10-04 | 2018-09-13 | null | 0 | null | Roche COBAS | Royal Marsden (molecular lab) |
| 200008605 | 11373866 | 200002402 | 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 | 2019-09-21 | 1)authoriseddate | 2019-03-29 | 2019-09-21 | null | 0 | null | SSCP | Royal Marsden (molecular lab) |
| 200008607 | 10739300 | 200002407 | 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 | 2019-03-05 | 3)receiveddate | 2019-03-17 | 2019-03-05 | p.(Val600Glu) | 1 | p.(Val600Glu) | Roche COBAS | Birmingham (molecular lab) |
| 200008608 | 10076089 | 200002409 | 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 | 2017-05-09 | 3)receiveddate | 2017-05-18 | 2017-05-09 | p.(Val600Glu) | 1 | p.(Val600Glu) | Roche COBAS | Birmingham (molecular lab) |
| 200008610 | 11698758 | 200002414 | BRAF | 6 | 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 | 2017-02-08 | 1)authoriseddate | 2016-08-07 | 2017-02-08 | null | 0 | null | Roche COBAS | Royal Marsden (molecular lab) |
| 200008611 | 11340862 | 200002415 | 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 | 2017-09-17 | 3)receiveddate | 2017-09-21 | 2017-09-18 | p.(Val600Lys) | 1 | p.(Val600Lys) | Roche COBAS | Birmingham (molecular lab) |
| 200008612 | 10469545 | 200002417 | 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 | 2016-08-15 | 1)authoriseddate | 2016-08-03 | 2016-08-15 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200008613 | 11432039 | 200002419 | 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 | 2016-04-28 | 1)authoriseddate | 2016-04-03 | 2016-04-28 | null | 0 | null | Roche COBAS | Royal Marsden (molecular lab) |
| 200008615 | 10499089 | 200002425 | 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 | 2017-09-25 | 1)authoriseddate | 2017-10-23 | 2017-09-25 | null | 0 | null | Roche COBAS | Royal Marsden (molecular lab) |
| 200008616 | 11192585 | 200002430 | BRAF | 6 | 2 | 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 | 2018-08-02 | 1)authoriseddate | 2018-08-28 | 2018-08-02 | null | 0 | null | Pyrosequencing,Roche COBAS | Manchester (molecular lab) |
| 200008617 | 11167016 | 200002431 | 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 | 2019-08-02 | 1)authoriseddate | 2019-08-06 | 2019-09-15 | p.(Val600Glu) | 1 | p.(Val600Glu) | Roche COBAS | Nottingham (molecular lab) |
| 200008618 | 11838194 | 200002432 | 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 | 0 | null | null | 2017-04-03 | 1)authoriseddate | 2017-03-12 | 2017-04-03 | p.V600X | 1 | p.V600X | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 200008619 | 10683711 | 200002436 | 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 | 2016-09-27 | 1)authoriseddate | 2016-10-26 | 2016-09-27 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200008620 | 11252427 | 200002438 | 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 | 2017-05-04 | 1)authoriseddate | 2017-04-23 | 2017-05-04 | null | 0 | null | Roche COBAS | Royal Marsden (molecular lab) |
| 200008621 | 11657932 | 200002446 | 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 | 0 | null | null | 2018-02-10 | 1)authoriseddate | 2017-12-11 | 2018-02-10 | p.V600X | 1 | p.V600X | Roche COBAS | Royal Marsden (molecular lab) |
| 200008622 | 10940672 | 200002448 | 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 | 2017-11-16 | 1)authoriseddate | 2017-01-06 | 2017-11-16 | p.(Val600Arg) | 1 | p.(Val600Arg) | Sequencing, Dideoxy/Sanger,Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 200008625 | 10924267 | 200002451 | 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 | 2018-04-14 | 1)authoriseddate | 2018-05-06 | 2018-04-14 | p.(Val600Glu) | 1 | p.(Val600Glu) | Roche COBAS | Royal Marsden (molecular lab) |
| 200008626 | 10419949 | 200002452 | 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 | 2017-07-28 | 1)authoriseddate | 2017-03-16 | 2017-07-28 | null | 0 | null | Roche COBAS | Royal Marsden (molecular lab) |
| 200008627 | 11567305 | 200002453 | 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 | 2018-12-10 | 1)authoriseddate | 2018-12-28 | 2019-01-14 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 200008628 | 10183687 | 200002454 | 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 | 2018-09-30 | 3)receiveddate | 2018-10-23 | 2018-09-30 | null | 0 | null | Roche COBAS | Birmingham (molecular lab) |
| 200008629 | 10040925 | 200002455 | 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 | 2017-02-03 | 1)authoriseddate | 2017-01-25 | 2017-02-03 | null | 0 | null | Roche COBAS | Royal Marsden (molecular lab) |
| 200008630 | 11964114 | 200002461 | 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 | 2017-07-22 | 1)authoriseddate | 2017-06-30 | 2017-07-22 | null | 0 | null | Roche COBAS | Royal Marsden (molecular lab) |
| 200008631 | 10288622 | 200002462 | 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 | 2019-01-20 | 1)authoriseddate | 2019-01-28 | 2019-01-20 | null | 0 | null | SSCP | Royal Marsden (molecular lab) |
| 200008632 | 10830207 | 200002469 | 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 | 2019-06-17 | 1)authoriseddate | 2019-04-30 | 2019-06-17 | null | 0 | null | SSCP | Royal Marsden (molecular lab) |
| 200008633 | 11474483 | 200002471 | 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 | 2016-07-07 | 1)authoriseddate | 2016-08-05 | 2016-07-07 | p.(Val600Glu) | 1 | p.(Val600Glu) | SSCP | Birmingham (molecular lab) |
| 200008634 | 10420824 | 200002475 | 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 | 0 | null | null | 2017-05-26 | 1)authoriseddate | 2017-06-15 | 2017-05-27 | p.V600X | 1 | p.V600X | Roche COBAS | Royal Marsden (molecular lab) |
| 200008635 | 11969050 | 200002478 | BRAF | 6 | 1 | 1 | 1 | e:failed | e:failed | 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 | 2016-08-14 | 1)authoriseddate | 2016-08-06 | 2016-08-14 | p.(Val600Lys),p.V600K | 2 | multiple | SSCP | Royal Marsden (molecular lab) |
| 200008637 | 10169732 | 200002481 | 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 | 2017-08-09 | 1)authoriseddate | 2017-06-14 | 2017-08-09 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing | Manchester (molecular lab) |
| 200008638 | 10184728 | 200002483 | 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 | 0 | null | null | 2016-07-22 | 1)authoriseddate | 2016-08-19 | 2016-07-22 | p.V600X | 1 | p.V600X | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 200008639 | 11190347 | 200002485 | 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 | 2019-04-15 | 1)authoriseddate | 2019-05-09 | 2019-04-15 | null | 0 | null | Roche COBAS | Royal Marsden (molecular lab) |
| 200008640 | 11635207 | 200002486 | BRAF | 6 | 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.1799T>A | c.1799T>A | 2017-04-25 | 1)authoriseddate | 2017-03-31 | 2017-04-25 | p.(Val600Glu) | 1 | p.(Val600Glu) | Pyrosequencing | Birmingham (molecular lab) |
| 200008641 | 10567631 | 200002487 | BRAF | 6 | 1 | 2 | 1 | a:abnormal,b:normal | 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 | 2019-07-05 | 1)authoriseddate | 2019-06-23 | 2019-07-05 | p.V600X | 1 | p.V600X | Unknown | Sheffield (molecular lab) |
| 200008642 | 11168420 | 200002492 | 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 | 0 | null | null | 2017-07-03 | 1)authoriseddate | 2016-02-03 | 2017-07-03 | null | 0 | null | SSCP | Royal Marsden (molecular lab) |
| 200008643 | 10778645 | 200002493 | 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 | 2016-08-12 | 1)authoriseddate | 2016-09-06 | 2016-08-12 | null | 0 | null | Roche COBAS | Royal Marsden (molecular lab) |
| 200008644 | 11892506 | 200002494 | BRAF | 6 | 2 | 2 | 2 | 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 | 0 | null | null | 2018-11-12 | 1)authoriseddate | 2018-12-11 | 2019-06-10 | p.V600X | 1 | p.V600X | Sequencing, Next Generation (NGS) | Nottingham (molecular lab) |
| 200008645 | 10512268 | 200002496 | 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>Ap.(Val600Glu) | c.1799T>Ap.(Val600Glu) | 2018-01-22 | 3)receiveddate | 2017-11-21 | 2018-01-22 | p.(Val600Glu) | 1 | p.(Val600Glu) | Multiple methods | Birmingham (molecular lab) |