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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130120734 | 11268534 | 130011754 | 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 | 2016-11-02 | 1)authoriseddate | 2016-11-27 | 2016-11-02 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130120737 | 10760129 | 130011759 | 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 | 2019-04-04 | 1)authoriseddate | 2019-04-27 | 2019-04-04 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130120738 | 10359854 | 130011760 | 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 | 2019-10-19 | 1)authoriseddate | 2019-08-12 | 2019-10-19 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130120745 | 11652917 | 130011771 | 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 | 2018-03-26 | 1)authoriseddate | 2018-04-25 | 2018-03-26 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130120746 | 10836242 | 130011772 | NRAS | 56 | 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 | 2019-05-18 | 1)authoriseddate | 2019-05-04 | 2019-05-18 | p.Gly12Asp | 1 | p.Gly12Asp | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130120747 | 10094355 | 130011776 | 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 | 2018-07-13 | 1)authoriseddate | 2018-08-02 | 2018-07-13 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130120756 | 10629744 | 130011794 | NRAS | 56 | 1 | 1 | 1 | g:unknown/null | g:unknown/null | 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 | 2017-01-01 | 1)authoriseddate | 2017-01-11 | 2017-01-01 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130120757 | 10562718 | 130011795 | 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 | 2019-03-26 | 1)authoriseddate | 2019-04-08 | 2019-03-26 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130120760 | 10495602 | 130011801 | 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 | 2016-08-27 | 1)authoriseddate | 2016-09-03 | 2016-08-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130120761 | 11609653 | 130011802 | NRAS | 56 | 1 | 3 | 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 | 2017-04-18 | 1)authoriseddate | 2017-05-14 | 2017-04-18 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130120762 | 11453542 | 130011803 | 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 | 2019-03-29 | 1)authoriseddate | 2019-04-27 | 2019-03-29 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130120763 | 11567787 | 130011807 | 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 | 2017-06-01 | 1)authoriseddate | 2017-06-29 | 2017-06-10 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130120768 | 11739773 | 130011816 | 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 | 2019-07-22 | 1)authoriseddate | 2019-07-26 | 2019-07-22 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130120769 | 11980973 | 130011817 | 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 | 2019-10-31 | 3)receiveddate | 2019-11-02 | 2020-01-22 | null | 0 | null | Sequencing, Next Generation (NGS) | Exeter (molecular lab) |
| 130120772 | 11417958 | 130011820 | 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 | 2018-04-02 | 1)authoriseddate | 2018-04-16 | 2018-04-02 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130120775 | 10916958 | 130011824 | 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 | 2017-01-21 | 1)authoriseddate | 2017-02-19 | 2017-01-21 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130120776 | 10685557 | 130011825 | 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 | 2017-04-16 | 1)authoriseddate | 2017-05-15 | 2017-04-16 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130120780 | 10276199 | 130011833 | 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 | 2019-06-10 | 1)authoriseddate | 2019-07-09 | 2019-06-10 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130120782 | 10389607 | 130011839 | 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 | 2018-04-25 | 1)authoriseddate | 2018-05-25 | 2018-04-25 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130120790 | 11753064 | 130011851 | 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 | 2017-01-18 | 1)authoriseddate | 2017-02-17 | 2017-01-18 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130050622 | 10748152 | 130019658 | 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 | 2019-01-22 | 1)authoriseddate | 2019-01-06 | 2019-01-22 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130120794 | 11881549 | 130011860 | NRAS | 56 | 2 | 2 | 2 | b:normal,g:unknown/null | 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 | 2019-08-14 | 3)receiveddate | 2019-09-09 | 2019-08-14 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130120797 | 11430183 | 130011864 | 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 | 2019-05-26 | 2)requesteddate | 2018-11-08 | 2019-05-26 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130127452 | 11547942 | 130022531 | PIK3CA | 60 | 1 | 1 | 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.1633G>A | c.1633G>A | 2019-11-09 | 1)authoriseddate | 2019-11-18 | 2019-11-09 | p.(Glu545Lys) | 1 | p.(Glu545Lys) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130127454 | 10680481 | 130022533 | 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.2285G>A | c.2285G>A | 2017-07-28 | 1)authoriseddate | 2016-12-27 | 2017-09-05 | p.(Asn345Lys) | 1 | p.(Asn345Lys) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130127458 | 11645311 | 130022549 | PIK3CA | 60 | 1 | 3 | 1 | e:failed,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 | 1 | c.263G>A | c.263G>A | 2019-09-19 | 1)authoriseddate | 2019-08-07 | 2019-09-19 | p.(Gln546Lys) | 1 | p.(Gln546Lys) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130127459 | 11010827 | 130022550 | 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 | 2018-05-31 | 1)authoriseddate | 2018-05-04 | 2018-05-31 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130127461 | 10640828 | 130022552 | 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 | 2019-06-04 | 1)authoriseddate | 2019-03-18 | 2019-06-04 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130127462 | 10850066 | 130022555 | 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 | 2018-12-07 | 1)authoriseddate | 2018-10-09 | 2018-12-07 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130127466 | 11966455 | 130022568 | 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 | 2019-12-13 | 1)authoriseddate | 2019-12-16 | 2019-12-13 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130127473 | 10633533 | 130022585 | 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 | 2018-10-24 | 1)authoriseddate | 2018-06-07 | 2018-10-24 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130127474 | 11404488 | 130022587 | 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 | 2019-11-06 | 1)authoriseddate | 2019-12-24 | 2019-11-06 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130127475 | 11574526 | 130022594 | 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 | 2017-07-27 | 2017-08-16 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130127477 | 10936913 | 130022597 | 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 | 2019-06-21 | 1)authoriseddate | 2019-06-15 | 2019-06-21 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130127478 | 10825412 | 130022601 | 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 | 2019-10-03 | 1)authoriseddate | 2019-10-26 | 2019-10-03 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130127480 | 10183066 | 130022619 | 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 | 2017-06-25 | 1)authoriseddate | 2017-05-22 | 2017-06-25 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130127483 | 11954888 | 130022623 | 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 | 2019-10-08 | 1)authoriseddate | 2019-10-17 | 2019-10-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130127486 | 11292078 | 130022634 | 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 | 2019-08-25 | 3)receiveddate | 2019-05-26 | 2019-08-25 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130127487 | 10667152 | 130022635 | 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 | 2018-03-29 | 1)authoriseddate | 2017-02-03 | 2018-03-29 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130127488 | 11117205 | 130022640 | 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.1633G>A | c.1633G>A | 2019-12-03 | 1)authoriseddate | 2019-12-19 | 2020-06-07 | p.(Glu545Lys) | 1 | p.(Glu545Lys) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130127489 | 10547290 | 130022642 | 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 | 2019-04-30 | 1)authoriseddate | 2019-05-04 | 2019-04-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130127493 | 11878398 | 130022655 | 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 | 2018-10-09 | 1)authoriseddate | 2018-08-09 | 2018-10-09 | p.(Glu542Lys) | 1 | p.(Glu542Lys) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130127494 | 10545668 | 130022657 | 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 | 2019-11-20 | 1)authoriseddate | 2018-01-28 | 2019-11-20 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130127495 | 11503312 | 130022658 | 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 | 2018-04-18 | 1)authoriseddate | 2019-04-26 | 2018-04-18 | p.(Glu545Asp) | 1 | p.(Glu545Asp) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130127496 | 11447999 | 130022659 | 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 | 2019-01-06 | 2018-12-09 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130127500 | 10586309 | 130022671 | PIK3CA | 60 | 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 | 0 | null | null | 2017-12-22 | 1)authoriseddate | 2017-10-26 | 2017-12-22 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130127501 | 11818845 | 130022674 | 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 | 2017-09-27 | 1)authoriseddate | 2017-07-03 | 2017-09-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130127503 | 11418119 | 130022676 | 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 | 2017-01-14 | 1)authoriseddate | 2017-01-25 | 2017-01-14 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130127506 | 10116193 | 130022681 | 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 | 2017-07-15 | 1)authoriseddate | 2017-07-28 | 2017-07-15 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130127508 | 11819562 | 130022686 | 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 | 2019-06-26 | 1)authoriseddate | 2018-10-05 | 2019-06-26 | p.(Glu545Lys) | 1 | p.(Glu545Lys) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |