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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 240005726 | 10569827 | 240000305 | CALR | 670 | 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 | 2019-04-03 | 2019-03-31 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240007523 | 10569827 | 240000305 | KIT | 44 | 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 | 2019-03-31 | 1)authoriseddate | 2019-03-31 | 2019-03-31 | p.(Val560del) | 1 | p.(Val560del) | Fragment length analysis | Royal Marsden (molecular lab) |
| 240009746 | 10569827 | 240000305 | FLT3 | 1609 | 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 | 2019-03-31 | 1)authoriseddate | 2019-04-27 | 2019-03-31 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240008811 | 10569827 | 240000305 | FLT3 | 1609 | 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 | 2019-04-29 | 2019-03-31 | p.(Lys558_Glu562del) | 1 | p.(Lys558_Glu562del) | Multiple methods | Birmingham (molecular lab) |
| 240000305 | 10569827 | 240000305 | MPL | 2779 | 1 | 1 | 1 | null | g:unknown/null | 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.1849G>T | c.1849G>T | 2019-03-31 | 1)authoriseddate | 2019-03-30 | 2019-03-31 | p.(Asp393fs),p.(Val272Met) | 2 | multiple | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240003226 | 10188753 | 240000306 | FLT3 | 1609 | 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 | 2017-08-07 | 1)authoriseddate | 2016-10-22 | 2017-08-07 | null | 0 | null | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 240000306 | 10188753 | 240000306 | PDGFRA | 59 | 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 | 2017-08-07 | 3)receiveddate | null | 2017-08-07 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 240000307 | 11121267 | 240000307 | MPL | 2779 | 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 | 2019-04-13 | 3)receiveddate | 2019-04-15 | 2019-04-13 | null | 0 | null | Immunochemistry | Cambridge (molecular lab) |
| 240003227 | 10992657 | 240000308 | JAK2 | 43 | 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 | 2018-01-07 | 2)requesteddate | 2017-06-13 | 2018-01-07 | p.V617F | 1 | p.V617F | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 240005727 | 10992657 | 240000308 | CALR | 670 | 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 | 2018-01-07 | 1)authoriseddate | 2017-04-11 | 2018-01-07 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240000308 | 10992657 | 240000308 | NRAS | 56 | 1 | 1 | 1 | null | g:unknown/null | 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 | 2018-01-07 | null | 2018-01-26 | 2018-01-07 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240003228 | 11495330 | 240000309 | FLT3 | 1609 | 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 | 2016-08-29 | 1)authoriseddate | 2016-07-14 | 2016-08-29 | p.(Trp557Gly) | 1 | p.(Trp557Gly) | SSCP | Birmingham (molecular lab) |
| 240005728 | 11495330 | 240000309 | CALR | 670 | 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 | 2016-08-29 | 1)authoriseddate | 2016-09-08 | 2016-08-29 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 240000309 | 11495330 | 240000309 | PDGFRA | 59 | 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 | 2016-08-29 | 1)authoriseddate | 2016-08-28 | null | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240000310 | 10805699 | 240000310 | NPM1 | 3061 | 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 | 2018-02-02 | 1)authoriseddate | 2018-02-02 | 2018-02-02 | p.L265P | 1 | p.L265P | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240003229 | 11786978 | 240000311 | KIT | 44 | 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.1679T>A | c.1679T>A | 2017-02-13 | 1)authoriseddate | 2017-02-14 | 2017-02-13 | p.Val560Glu | 1 | p.Val560Glu | Pyrosequencing | Birmingham (molecular lab) |
| 240000311 | 11786978 | 240000311 | MPL | 2779 | 1 | 1 | 1 | null | g:unknown/null | 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 | 2017-02-13 | 3)receiveddate | null | 2017-02-13 | null | 0 | null | FISH - Specific Probe | Birmingham (molecular lab) |
| 240003230 | 10699324 | 240000312 | JAK2 | 43 | 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 | 2018-10-16 | 1)authoriseddate | 2018-09-30 | 2018-10-16 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240005729 | 10699324 | 240000312 | CALR | 670 | 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 | 2018-10-16 | 1)authoriseddate | 2018-11-12 | 2018-10-16 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240007524 | 10699324 | 240000312 | FLT3 | 1609 | 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 | 2018-10-16 | 2)requesteddate | 2018-10-19 | 2021-01-17 | p.(Lys385Asnfs*47) | 1 | p.(Lys385Asnfs*47) | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 240010908 | 10699324 | 240000312 | KIT | 44 | 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.1722_1730dup | c.1722_1730dup | 2018-10-16 | 1)authoriseddate | 2018-09-16 | 2018-10-16 | p.(Val560del) | 1 | p.(Val560del) | Fragment length analysis | Birmingham (molecular lab) |
| 240010420 | 10699324 | 240000312 | KIT | 44 | 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 | 0 | null | null | 2018-10-16 | 3)receiveddate | 2018-11-14 | 2018-10-16 | p.(Val560Glu) | 1 | p.(Val560Glu) | Fragment length analysis | Royal Marsden (molecular lab) |
| 240009747 | 10699324 | 240000312 | FLT3 | 1609 | 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 | 2018-10-16 | 3)receiveddate | 2018-11-05 | 2019-02-13 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 240008812 | 10699324 | 240000312 | FLT3 | 1609 | 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 | 2018-10-16 | 1)authoriseddate | 2018-10-15 | 2018-10-16 | p.(Val559Ala) | 1 | p.(Val559Ala) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 240000312 | 10699324 | 240000312 | MYC | 52 | 1 | 1 | 1 | null | g:unknown/null | 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 | 2018-10-16 | 1)authoriseddate | 2018-10-20 | 2018-10-16 | null | 0 | null | Roche COBAS | Royal Marsden (molecular lab) |
| 240003231 | 10729929 | 240000313 | JAK2 | 43 | 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 | 2016-08-17 | 1)authoriseddate | 2016-09-12 | 2016-08-17 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 240005730 | 10729929 | 240000313 | CALR | 670 | 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 | 2016-08-17 | 1)authoriseddate | 2016-06-18 | 2016-08-17 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240000313 | 10729929 | 240000313 | NPM1 | 3061 | 1 | 1 | 1 | b:normal | b:normal | 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 | 2016-08-17 | null | 2016-08-14 | 2016-08-17 | p.Val600Glu | 1 | p.Val600Glu | null | null |
| 240003232 | 10669102 | 240000314 | FLT3 | 1609 | 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 | 2019-06-27 | 1)authoriseddate | 2019-06-22 | 2019-06-27 | p.(Val560Gly) | 1 | p.(Val560Gly) | Mass Spectrometry Genotyping / MALDI-TOF | Royal Marsden (molecular lab) |
| 240005731 | 10669102 | 240000314 | CALR | 670 | 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.1142_1144delp.(Glu381del) | c.1142_1144delp.(Glu381del) | 2019-06-27 | 2)requesteddate | 2019-06-28 | 2019-06-27 | p.(Met552_Val555del) | 1 | p.(Met552_Val555del) | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 240000314 | 10669102 | 240000314 | TP53 | 79 | 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 | 2019-06-27 | 1)authoriseddate | 2019-06-24 | 2019-06-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240003233 | 10401040 | 240000315 | KIT | 44 | 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 | 2019-07-16 | 1)authoriseddate | 2019-03-07 | 2019-07-16 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 240003234 | 10786493 | 240000316 | JAK2 | 43 | 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 | 1)authoriseddate | 2019-06-15 | 2019-05-30 | p.V617F | 1 | p.V617F | SSCP | Royal Marsden (molecular lab) |
| 240005732 | 10786493 | 240000316 | FLT3 | 1609 | 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 | 2019-06-01 | 2)requesteddate | 2019-06-10 | 2019-06-01 | p.(Gln575_Pro577dup) | 1 | p.(Gln575_Pro577dup) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 240007525 | 10786493 | 240000316 | FLT3 | 1609 | 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 | 2019-06-01 | 1)authoriseddate | 2019-05-24 | 2019-06-01 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 240000316 | 10786493 | 240000316 | ROS1 | 67 | 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 | null | 2019-06-14 | 2019-05-30 | null | 0 | null | Sequencing, Next Generation (NGS) | null |
| 240003235 | 10614962 | 240000317 | KIT | 44 | 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 | 2019-08-07 | 1)authoriseddate | 2019-07-08 | 2019-08-07 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 240000317 | 10614962 | 240000317 | NPM1 | 3061 | 1 | 1 | 1 | null | g:unknown/null | 0 | null | null | null | null | null | null | 0 | null | null | 2019-08-07 | null | null | 2019-08-07 | p.L265P | 1 | p.L265P | null | null |
| 240003237 | 11471083 | 240000319 | KIT | 44 | 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 | 2017-01-24 | 1)authoriseddate | 2017-02-25 | 2017-01-24 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240000319 | 11471083 | 240000319 | MYD88 | 2858 | 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 | 2017-01-24 | 2)requesteddate | null | 2017-01-24 | null | 0 | null | Sequencing, Next Generation (NGS) | null |
| 240003238 | 11856227 | 240000320 | FLT3 | 1609 | 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 | 2016-07-20 | 1)authoriseddate | 2016-07-21 | 2016-07-20 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240005733 | 11856227 | 240000320 | CALR | 670 | 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 | 2016-07-20 | 1)authoriseddate | 2016-07-21 | 2016-07-20 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240000320 | 11856227 | 240000320 | NPM1 | 3061 | 1 | 1 | 1 | null | g:unknown/null | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_fusion/trans | null | 0 | null | null | 2016-07-20 | 2)requesteddate | null | null | null | 0 | null | FISH - Specific Probe | Cambridge (molecular lab) |
| 240003239 | 11327278 | 240000321 | KIT | 44 | 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.1679_1680delTTinsAG | c.1679_1680delTTinsAG | 2016-05-22 | 3)receiveddate | 2016-05-21 | 2016-05-22 | p.(Met552_Trp557del) | 1 | p.(Met552_Trp557del) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 240000321 | 11327278 | 240000321 | MPL | 2779 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | a:abnormal_fusion/trans | fus_trans | 0 | null | null | 2016-05-22 | 1)authoriseddate | null | 2016-05-22 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 240003240 | 10131368 | 240000322 | FLT3 | 1609 | 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 | 2016-02-12 | 1)authoriseddate | 2016-02-04 | 2016-02-16 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 240005734 | 10131368 | 240000322 | CALR | 670 | 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 | 2016-02-12 | 1)authoriseddate | 2016-03-09 | 2016-02-12 | null | 0 | null | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 240007526 | 10131368 | 240000322 | KIT | 44 | 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 | 2016-02-12 | 2)requesteddate | 2016-02-23 | 2016-02-12 | null | 0 | null | Sequencing, Next Generation (NGS) | Bristol (molecular lab) |
| 240000322 | 10131368 | 240000322 | MPL | 2779 | 1 | 2 | 1 | a:abnormal,b:normal | a:abnormal | 1 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | ab:abnormal_copy_no_gain | b:normal_fusion/trans | copy_no_gain | 0 | null | null | 2016-02-12 | 2)requesteddate | 2016-02-10 | 2016-02-12 | null | 0 | null | FISH - Specific Probe | Cambridge (molecular lab) |
| 240003241 | 10230045 | 240000323 | FLT3 | 1609 | 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 | 2019-06-06 | 1)authoriseddate | 2019-06-23 | 2019-06-06 | p.(Val559Ala) | 1 | p.(Val559Ala) | Fragment length analysis | Cambridge (molecular lab) |