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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130156796 | 11845560 | 130003145 | MSH6 | 2808 | 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 | 2019-04-11 | 1)authoriseddate | 2019-05-06 | 2019-04-11 | null | 0 | null | Immunochemistry | Unknown |
| 130156797 | 11730394 | 130003151 | MSH6 | 2808 | 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 | 2019-09-25 | 1)authoriseddate | 2019-05-28 | 2019-09-25 | null | 0 | null | Immunochemistry | Birmingham (molecular lab),Pathology lab |
| 130156798 | 11124778 | 130003158 | MSH6 | 2808 | 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 | 2019-02-04 | 1)authoriseddate | 2019-03-03 | 2019-02-04 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130156799 | 10553199 | 130003159 | MSH6 | 2808 | 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 | 2018-04-15 | 1)authoriseddate | 2018-05-12 | 2019-07-14 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130156800 | 11674731 | 130003166 | MSH6 | 2808 | 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 | 2018-06-03 | 1)authoriseddate | 2018-07-02 | 2018-06-22 | null | 0 | null | Immunochemistry | Birmingham (molecular lab) |
| 130156801 | 11198598 | 130003169 | KRAS | 47 | 1 | 3 | 1 | a:abnormal,a:abnormal,c:borderline | 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 | 2017-03-03 | 1)authoriseddate | 2017-02-05 | 2017-03-03 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130156802 | 10130084 | 130003173 | 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 | 2019-02-23 | 1)authoriseddate | 2019-03-18 | 2019-02-23 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130156803 | 11254435 | 130003174 | 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 | 2019-04-22 | 1)authoriseddate | 2019-05-21 | 2019-04-22 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130156804 | 10569640 | 130003175 | 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 | 2018-05-14 | 1)authoriseddate | 2018-06-11 | 2018-05-14 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130156805 | 10929390 | 130003178 | 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 | 2016-11-08 | 3)receiveddate | 2016-11-13 | 2016-11-08 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130156806 | 10470108 | 130003180 | 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>A | c.436G>A | 2018-08-25 | 1)authoriseddate | 2018-06-30 | 2018-08-25 | p.(Ala146Thr) | 1 | p.(Ala146Thr) | Pyrosequencing | Birmingham (molecular lab) |
| 130156807 | 10234943 | 130003183 | 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 | 2018-12-07 | 1)authoriseddate | 2018-12-23 | 2018-12-07 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130156808 | 11228146 | 130003185 | 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 | 2018-01-10 | 1)authoriseddate | 2018-02-06 | 2018-01-10 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130156809 | 11765830 | 130003189 | 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 | 2018-10-30 | 1)authoriseddate | 2018-11-28 | 2018-10-30 | p.Ala146Val | 1 | p.Ala146Val | Pyrosequencing | Birmingham (molecular lab) |
| 130156810 | 10704684 | 130003194 | 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 | 2019-03-12 | 1)authoriseddate | 2019-03-21 | 2019-03-12 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130156811 | 11956373 | 130003215 | 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 | 2019-09-02 | 1)authoriseddate | 2019-09-05 | 2019-09-02 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130156812 | 10954142 | 130003219 | 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 | 2018-05-28 | 1)authoriseddate | 2018-06-08 | 2018-06-05 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130156813 | 10034248 | 130003223 | 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 | 2019-07-16 | 1)authoriseddate | 2019-06-08 | 2019-07-16 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130156814 | 10979769 | 130003224 | 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 | 2019-07-24 | 1)authoriseddate | 2019-08-17 | 2019-07-24 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130156815 | 10058500 | 130003229 | 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 | 2019-04-08 | 1)authoriseddate | 2019-04-23 | 2019-04-08 | p.Gly13Asp | 1 | p.Gly13Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130156816 | 11824741 | 130003230 | 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 | 2018-11-16 | 1)authoriseddate | 2018-09-24 | 2018-11-16 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130156817 | 11406927 | 130003244 | 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 | 2016-12-15 | 1)authoriseddate | 2017-01-01 | 2016-12-15 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Exeter (molecular lab) |
| 130156818 | 11838810 | 130003247 | 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 | 2019-06-05 | 1)authoriseddate | 2019-07-02 | 2019-07-13 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130156819 | 10178306 | 130003249 | 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 | 2019-06-17 | 1)authoriseddate | 2019-07-15 | 2019-06-17 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Leeds (molecular lab) |
| 130156820 | 11389375 | 130003254 | 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 | 2017-01-02 | 1)authoriseddate | 2017-01-23 | 2017-01-02 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130156821 | 10762371 | 130003258 | 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 | 2018-01-16 | 3)receiveddate | 2018-02-12 | 2018-01-16 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130156822 | 10758202 | 130003259 | 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>A | c.34G>A | 2019-10-14 | 1)authoriseddate | 2019-10-28 | 2019-10-14 | p.(Gly12Ser) | 1 | p.(Gly12Ser) | Pyrosequencing | Nottingham (molecular lab) |
| 130156823 | 10239701 | 130003260 | 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 | 2019-01-19 | 1)authoriseddate | 2019-02-18 | 2019-01-19 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Manchester (molecular lab) |
| 130156824 | 11559479 | 130003262 | 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 | 2019-09-15 | 1)authoriseddate | 2019-10-15 | 2019-09-15 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130156825 | 10449081 | 130003263 | 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 | 2019-07-02 | 1)authoriseddate | 2019-07-26 | 2019-07-02 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130156826 | 11790678 | 130003267 | 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 | 2 | c.34F>T,c.34G>T | multiple | 2019-06-03 | 1)authoriseddate | 2019-06-19 | 2019-06-03 | p.(Val14Ile) | 1 | p.(Val14Ile) | Pyrosequencing | Birmingham (molecular lab) |
| 130156827 | 11719371 | 130003268 | KRAS | 47 | 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.35G>A | c.35G>A | 2017-08-29 | 1)authoriseddate | 2017-09-25 | 2017-09-16 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130156828 | 10877160 | 130003282 | 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 | 2016-10-15 | 1)authoriseddate | 2016-11-05 | 2016-10-15 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 130156829 | 10038471 | 130003284 | 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 | 2019-07-12 | 1)authoriseddate | 2019-08-05 | 2019-07-12 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130156830 | 10466033 | 130003285 | 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 | 2017-01-15 | 1)authoriseddate | 2017-01-21 | 2017-01-15 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130156831 | 10012027 | 130003288 | 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 | 2019-09-28 | 1)authoriseddate | 2019-10-16 | 2019-09-28 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130156832 | 11735671 | 130003294 | 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 | 2017-04-17 | 1)authoriseddate | 2017-05-16 | 2017-04-27 | null | 0 | null | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 130156833 | 11792188 | 130003298 | 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 | 2019-04-28 | 1)authoriseddate | 2019-05-23 | 2019-04-28 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130156834 | 11513622 | 130003302 | KRAS | 47 | 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.35G>A | c.35G>A | 2019-03-02 | 1)authoriseddate | 2019-03-29 | 2019-03-02 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130156835 | 10204404 | 130003315 | 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 | 2019-06-12 | 1)authoriseddate | 2019-06-25 | 2019-06-12 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130156836 | 10048626 | 130003316 | 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 | 2018-07-02 | 1)authoriseddate | 2018-07-31 | 2018-07-02 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130156837 | 11765571 | 130003320 | 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 | 2017-09-16 | 1)authoriseddate | 2017-10-09 | 2017-09-16 | p.Gly13Asp | 1 | p.Gly13Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130156838 | 11913091 | 130003327 | 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 | 2017-07-20 | 1)authoriseddate | 2017-08-15 | 2017-07-20 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130156839 | 10474363 | 130003328 | 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 | 2019-12-30 | 1)authoriseddate | 2020-01-28 | 2019-12-30 | null | 0 | null | Pyrosequencing | Cambridge (molecular lab) |
| 130156840 | 10570895 | 130003329 | 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 | 2018-11-04 | 1)authoriseddate | 2018-11-14 | 2018-11-04 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130156841 | 10830048 | 130003334 | 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 | 2018-03-31 | 1)authoriseddate | 2018-04-28 | 2018-03-31 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130156842 | 11125537 | 130003336 | 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 | 2018-11-10 | 1)authoriseddate | 2018-12-09 | 2018-11-10 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130156843 | 10146793 | 130003338 | 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 | 2017-09-03 | 1)authoriseddate | 2017-09-24 | 2017-09-03 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130156844 | 10765576 | 130003344 | KRAS | 47 | 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.38G>A | c.38G>A | 2018-05-08 | 1)authoriseddate | 2018-06-05 | 2018-05-08 | p.G13D | 1 | p.G13D | Pyrosequencing | Birmingham (molecular lab) |
| 130156845 | 10794207 | 130003345 | 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 | 2017-03-11 | 1)authoriseddate | 2017-04-03 | 2017-03-11 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |