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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 100081082 | 11300246 | 100039308 | KRAS | 47 | 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 | 2018-03-31 | 1)authoriseddate | 2018-04-14 | 2018-03-31 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 100081084 | 10332620 | 100039310 | 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>T | c.34G>T | 2019-08-26 | 1)authoriseddate | 2019-09-20 | 2019-08-26 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100081085 | 10662556 | 100039311 | 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 | 2018-05-07 | 1)authoriseddate | 2018-04-25 | 2018-05-07 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100081087 | 10898459 | 100039313 | 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 | 2017-06-19 | 1)authoriseddate | 2017-07-19 | 2017-06-19 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100081089 | 11465188 | 100039316 | 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 | 2017-04-27 | 1)authoriseddate | 2017-02-15 | 2017-04-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 100081095 | 11456864 | 100039323 | 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 | 2019-01-31 | 1)authoriseddate | 2019-01-17 | 2019-01-31 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100081098 | 10050157 | 100039326 | 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 | 2018-01-30 | 3)receiveddate | 2018-02-12 | 2018-01-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100081102 | 10125617 | 100039330 | 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 | 2016-10-31 | 3)receiveddate | 2016-09-10 | 2016-10-31 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100081106 | 11188691 | 100039335 | 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 | 2019-01-05 | 1)authoriseddate | 2019-01-24 | 2019-01-05 | null | 0 | null | Sequencing, Next Generation (NGS) | Sheffield (molecular lab) |
| 100081109 | 10324976 | 100039338 | KRAS | 47 | 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 | 2018-09-06 | 1)authoriseddate | 2018-09-20 | 2018-09-06 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 100000459 | 10801711 | 100000459 | EGFR | 24 | 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 | 2016-08-11 | 1)authoriseddate | 2016-08-09 | 2016-08-11 | null | 0 | null | Sequencing, Next Generation (NGS) | Unknown |
| 100081114 | 10848748 | 100039343 | 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 | 2019-07-21 | 1)authoriseddate | 2019-07-17 | 2019-07-21 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 100081125 | 10236553 | 100039354 | 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 | 2019-02-11 | 1)authoriseddate | 2018-05-21 | 2019-02-11 | null | 0 | null | Sequencing, Next Generation (NGS) | Sheffield (molecular lab) |
| 100081127 | 10314751 | 100039356 | 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 | 2016-11-16 | 3)receiveddate | 2019-06-18 | 2016-11-16 | null | 0 | null | Sequencing, Next Generation (NGS) | Sheffield (molecular lab) |
| 100081130 | 10615758 | 100039359 | 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 | 2016-09-25 | 1)authoriseddate | 2016-10-23 | 2016-09-25 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 100081133 | 10983211 | 100039363 | 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 | 2016-03-01 | 1)authoriseddate | 2016-03-10 | 2016-03-01 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100081134 | 11950692 | 100039364 | 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 | 2016-09-04 | 1)authoriseddate | 2016-09-16 | 2016-09-04 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100081136 | 11571681 | 100039366 | 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 | 2017-10-09 | 3)receiveddate | 2017-09-19 | 2017-10-09 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100081137 | 11020939 | 100039368 | 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 | 2018-09-19 | 1)authoriseddate | 2018-09-30 | 2018-09-19 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 100081138 | 11434051 | 100039369 | 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 | 2019-03-04 | 1)authoriseddate | 2019-02-07 | 2019-03-04 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 100081140 | 11316610 | 100039371 | 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 | 2017-11-29 | 1)authoriseddate | 2017-12-21 | 2017-11-29 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 100081141 | 10511219 | 100039372 | 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 | 2019-07-15 | 1)authoriseddate | 2019-08-14 | 2019-07-15 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100081142 | 10504863 | 100039373 | 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 | 2016-02-23 | 3)receiveddate | 2016-03-09 | 2016-02-23 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100081148 | 11958279 | 100039379 | 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 | 2017-11-20 | 1)authoriseddate | 2017-10-19 | 2017-11-20 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100081149 | 10890449 | 100039380 | KRAS | 47 | 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 | 2016-12-08 | 1)authoriseddate | 2019-03-18 | 2016-12-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 100081151 | 11470492 | 100039382 | 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 | 2016-10-04 | 1)authoriseddate | 2016-10-04 | 2016-10-04 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100081152 | 10854956 | 100039384 | 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 | 2019-10-07 | 1)authoriseddate | 2019-10-05 | 2019-10-07 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 100081154 | 11669345 | 100039386 | 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 | 2019-03-16 | 1)authoriseddate | 2019-04-03 | 2019-03-16 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 100081156 | 11359134 | 100039388 | 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 | 2016-06-12 | 1)authoriseddate | 2016-04-07 | 2016-06-12 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100081157 | 10952372 | 100039389 | 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 | 2018-08-08 | 1)authoriseddate | 2018-08-11 | 2018-08-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 100081158 | 10647063 | 100039390 | 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 | 2018-11-18 | 1)authoriseddate | 2018-12-15 | 2018-11-18 | null | 0 | null | Sequencing, Next Generation (NGS) | Bristol (molecular lab) |
| 100081161 | 10512257 | 100039393 | 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 | 2016-09-28 | 1)authoriseddate | 2016-03-09 | 2016-09-28 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100081162 | 10574335 | 100039394 | 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>T | c.34G>T | 2019-03-14 | 1)authoriseddate | 2019-03-23 | 2019-03-14 | p.Gly12Cys | 1 | p.Gly12Cys | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100081165 | 11110567 | 100039397 | 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 | 2017-01-28 | 1)authoriseddate | 2017-03-11 | 2017-01-28 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100081166 | 11992917 | 100039398 | KRAS | 47 | 1 | 2 | 1 | e:failed,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>C | c.35G>C | 2016-11-18 | 3)receiveddate | 2016-10-30 | 2016-11-18 | p.G12A | 1 | p.G12A | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 100081167 | 11399016 | 100039399 | 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 | 2016-10-08 | 1)authoriseddate | 2016-09-22 | 2016-10-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 100081171 | 10458471 | 100039403 | 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>T | c.34G>T | 2017-01-24 | 3)receiveddate | 2017-02-10 | 2017-01-24 | p.Gly12Cys | 1 | p.Gly12Cys | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100081175 | 10301593 | 100039407 | 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 | 2017-11-13 | 1)authoriseddate | 2017-11-27 | 2017-11-13 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 100081176 | 11871895 | 100039408 | 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>C | c.35G>C | 2017-08-17 | 1)authoriseddate | 2017-07-30 | 2017-08-18 | p.(Gly12Ala) | 1 | p.(Gly12Ala) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100081178 | 11167684 | 100039410 | 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 | 2017-01-16 | 1)authoriseddate | 2017-02-05 | 2017-01-16 | null | 0 | null | Sequencing, Next Generation (NGS) | Newcastle (molecular lab) |
| 100081179 | 10006565 | 100039411 | 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>T | c.34G>T | 2017-02-10 | 1)authoriseddate | 2017-03-02 | 2017-05-04 | p.Gly12Cys | 1 | p.Gly12Cys | Sequencing, Next Generation (NGS) | Bristol (molecular lab) |
| 100081184 | 11134940 | 100039417 | 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 | 2017-08-09 | 1)authoriseddate | 2018-10-03 | 2017-08-09 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 100081186 | 10475262 | 100039419 | 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 | 2017-07-08 | 1)authoriseddate | 2017-08-05 | 2017-07-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 100081191 | 10596091 | 100039424 | 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 | 2018-05-19 | 1)authoriseddate | 2018-06-17 | 2018-05-19 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100000446 | 10810875 | 100000446 | EGFR | 24 | 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 | 2017-09-02 | 2)requesteddate | 2017-09-02 | 2017-09-02 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 100081200 | 10641153 | 100039433 | 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>T | c.34G>T | 2017-03-25 | 1)authoriseddate | 2019-11-22 | 2017-03-25 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100081201 | 11843849 | 100039434 | 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 | 2017-03-28 | 1)authoriseddate | 2017-04-20 | 2017-03-28 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 100081203 | 11946875 | 100039436 | 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>T | c.34G>T | 2018-08-24 | 1)authoriseddate | 2018-09-22 | 2018-08-24 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 100081206 | 11092917 | 100039439 | 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 | 2018-04-09 | 1)authoriseddate | 2018-04-17 | 2018-04-09 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 100000388 | 11765919 | 100000388 | EGFR | 24 | 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.2582T>A | c.2582T>A | 2018-11-04 | 2)requesteddate | 2018-11-02 | 2018-11-11 | p.Leu861Gln | 1 | p.Leu861Gln | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |