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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130117936 | 11778469 | 130007117 | 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 | 2017-10-13 | 1)authoriseddate | 2017-08-14 | 2017-10-13 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117937 | 11085385 | 130007118 | 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 | 2017-08-26 | 1)authoriseddate | 2017-09-15 | 2017-08-26 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117938 | 11521320 | 130007121 | 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 | 2019-11-18 | 1)authoriseddate | 2019-12-10 | 2019-11-18 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130117940 | 11022629 | 130007125 | KRAS | 47 | 2 | 2 | 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 | 2018-02-01 | 1)authoriseddate | 2018-02-26 | 2018-02-01 | null | 0 | null | Pyrosequencing | Nottingham (molecular lab) |
| 130117941 | 10533899 | 130007126 | 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 | 2019-10-31 | 1)authoriseddate | 2019-11-23 | 2019-10-31 | null | 0 | null | Pyrosequencing | Unknown |
| 130117942 | 11376279 | 130007128 | KRAS | 47 | 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 | 2017-09-26 | 3)receiveddate | 2017-08-20 | 2017-09-26 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130117943 | 10717729 | 130007129 | 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 | 2019-07-20 | 1)authoriseddate | 2019-07-03 | 2019-07-20 | p.(Gly12Ala) | 1 | p.(Gly12Ala) | Pyrosequencing | Birmingham (molecular lab) |
| 130117944 | 10917873 | 130007131 | 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 | 2019-01-02 | 1)authoriseddate | 2019-02-01 | 2019-01-02 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Exeter (molecular lab) |
| 130117945 | 10158262 | 130007132 | KRAS | 47 | 2 | 2 | 2 | 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 | 2017-11-12 | 3)receiveddate | 2017-11-25 | 2017-11-12 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130117946 | 10466904 | 130007134 | 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 | 2019-09-02 | 1)authoriseddate | 2019-09-29 | 2019-09-02 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130117947 | 11905404 | 130007135 | KRAS | 47 | 2 | 2 | 2 | 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 | 2017-12-14 | 1)authoriseddate | 2017-11-12 | 2017-12-14 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117948 | 10644443 | 130007137 | 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 | 2019-10-11 | 1)authoriseddate | 2019-10-22 | 2019-10-11 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130117949 | 11425807 | 130007138 | 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 | 2017-09-07 | 1)authoriseddate | 2017-09-25 | 2017-12-21 | null | 0 | null | Pyrosequencing | Cambridge (molecular lab) |
| 130117950 | 11814559 | 130007139 | KRAS | 47 | 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 | 2018-10-06 | 1)authoriseddate | 2018-11-01 | 2018-10-06 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130117951 | 10061510 | 130007142 | 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 | 2019-07-21 | 1)authoriseddate | 2019-08-19 | 2019-07-21 | p.Gly12Val | 1 | p.Gly12Val | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130117952 | 11853105 | 130007145 | 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 | 2018-05-12 | 1)authoriseddate | 2018-06-03 | 2018-05-12 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117953 | 11171155 | 130007146 | KRAS | 47 | 1 | 2 | 1 | g:unknown/null,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 | 2019-05-13 | 1)authoriseddate | 2019-03-07 | 2019-05-13 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117954 | 11265280 | 130007148 | 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 | 2019-07-03 | 1)authoriseddate | 2019-07-29 | 2019-07-03 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117955 | 10954789 | 130007155 | KRAS | 47 | 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 | 2019-12-03 | 1)authoriseddate | 2020-01-01 | 2019-12-03 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117956 | 10242832 | 130007156 | 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 | 2018-06-11 | 1)authoriseddate | 2018-07-06 | 2018-06-11 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130117957 | 11325989 | 130007157 | 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 | 2019-06-12 | 1)authoriseddate | 2019-07-11 | 2019-06-12 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117958 | 10822688 | 130007159 | 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 | 2018-09-26 | 3)receiveddate | 2018-10-26 | 2018-09-26 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117959 | 11365145 | 130007162 | 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 | 2019-11-21 | 1)authoriseddate | 2019-12-17 | 2019-11-21 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130117960 | 11495210 | 130007163 | 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 | 2017-10-18 | 1)authoriseddate | 2017-11-15 | 2017-10-18 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117961 | 11059783 | 130007165 | 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 | 2019-10-11 | 1)authoriseddate | 2019-09-14 | 2019-10-11 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117962 | 10098416 | 130007167 | 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 | 2019-04-28 | 1)authoriseddate | 2019-05-25 | 2019-04-28 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130117963 | 10810170 | 130007168 | 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 | 2019-06-22 | 1)authoriseddate | 2019-07-22 | 2019-06-22 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117964 | 11069846 | 130007171 | 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 | 2019-03-04 | 1)authoriseddate | 2019-03-29 | 2019-03-04 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Leeds (molecular lab) |
| 130117965 | 11923982 | 130007172 | 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.182_183delinsTT | c.182_183delinsTT | 2019-07-05 | 1)authoriseddate | 2019-08-02 | 2019-07-05 | p.Ala146Pro | 1 | p.Ala146Pro | Pyrosequencing | Birmingham (molecular lab) |
| 130117966 | 10383580 | 130007173 | 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 | 2018-05-13 | 1)authoriseddate | 2018-05-29 | 2018-05-13 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Royal Marsden (molecular lab) |
| 130117967 | 11283836 | 130007174 | 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 | 2019-07-07 | 1)authoriseddate | 2019-07-22 | 2019-07-07 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117968 | 10440481 | 130007178 | 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 | 2017-07-31 | 1)authoriseddate | 2017-08-17 | 2017-07-31 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130117969 | 11490084 | 130007180 | 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 | 2018-06-04 | 3)receiveddate | 2018-06-06 | 2018-06-04 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130117970 | 10502340 | 130007181 | 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 | 2018-01-28 | 1)authoriseddate | 2018-02-04 | 2018-01-28 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117971 | 11108541 | 130007183 | 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.436G>C | c.436G>C | 2019-01-09 | 1)authoriseddate | 2019-01-31 | 2019-01-09 | p.Gln61Lys | 1 | p.Gln61Lys | Pyrosequencing | Manchester (molecular lab) |
| 130117972 | 10953502 | 130007184 | 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 | 2018-01-15 | 1)authoriseddate | 2018-02-03 | 2018-01-15 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |
| 130117973 | 10728360 | 130007186 | 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 | 2019-10-17 | 1)authoriseddate | 2019-11-10 | 2019-10-17 | null | 0 | null | DNA methylation / imprinting / epigenetic analysis | Birmingham (molecular lab) |
| 130117974 | 11044595 | 130007187 | 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 | 2016-12-05 | 1)authoriseddate | 2017-01-01 | 2016-12-05 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130117975 | 10639338 | 130007190 | 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 | 2019-11-25 | 1)authoriseddate | 2019-12-13 | 2019-11-25 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117976 | 10792406 | 130007191 | 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 | 2017-06-09 | 3)receiveddate | 2017-07-03 | 2017-06-09 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117977 | 10072276 | 130007193 | KRAS | 47 | 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 | 2019-05-22 | 1)authoriseddate | 2019-06-21 | 2019-05-22 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117978 | 10020382 | 130007194 | 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 | 2019-05-30 | 1)authoriseddate | 2019-06-24 | 2019-05-30 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130117979 | 10288044 | 130007195 | 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 | 2019-11-05 | 1)authoriseddate | 2019-11-26 | 2019-11-05 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130117980 | 10393462 | 130007199 | 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 | 2016-03-04 | 1)authoriseddate | 2016-03-24 | 2016-03-04 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117981 | 10496258 | 130007201 | 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.99T>G | c.99T>G | 2019-10-24 | 2)requesteddate | 2019-11-23 | 2019-10-24 | p.A146T | 1 | p.A146T | Pyrosequencing | Cambridge (molecular lab) |
| 130117982 | 11434837 | 130007203 | 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 | 2017-05-21 | 1)authoriseddate | 2017-05-17 | 2017-05-21 | p.Gly12Asp | 1 | p.Gly12Asp | Mass Spectrometry Genotyping / MALDI-TOF | Newcastle (molecular lab) |
| 130117983 | 11120169 | 130007204 | 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.38G>A | c.38G>A | 2016-06-04 | 1)authoriseddate | 2016-06-30 | 2016-06-04 | p.Gly13Asp | 1 | p.Gly13Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130117984 | 11994672 | 130007205 | 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 | 2019-02-02 | 2019-01-05 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117985 | 11741300 | 130007206 | 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 | 2019-07-11 | 1)authoriseddate | 2019-08-07 | 2019-07-11 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130117986 | 10194779 | 130007209 | 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.437C>T | c.437C>T | 2019-06-22 | 1)authoriseddate | 2019-07-10 | 2019-06-22 | p.Ala146Val | 1 | p.Ala146Val | Pyrosequencing | Manchester (molecular lab) |