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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130048025 | 11644425 | 130017027 | 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 | 2017-10-01 | 3)receiveddate | 2017-09-17 | 2017-10-01 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048026 | 11362682 | 130017028 | 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 | 2019-01-20 | 1)authoriseddate | 2019-02-18 | 2019-01-20 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048027 | 11409782 | 130017029 | 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 | 2019-09-14 | 1)authoriseddate | 2019-10-10 | 2019-09-14 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048028 | 11384441 | 130017030 | KRAS | 47 | 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 | 2017-10-28 | 1)authoriseddate | 2017-10-21 | 2017-10-28 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130048029 | 10253719 | 130017031 | 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 | 2019-11-29 | 3)receiveddate | 2019-12-28 | 2019-11-29 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Cambridge (molecular lab) |
| 130048030 | 10348896 | 130017032 | 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 | 2019-07-24 | 3)receiveddate | 2019-08-18 | 2019-07-24 | p.Gly12Cys | 1 | p.Gly12Cys | Pyrosequencing | Birmingham (molecular lab) |
| 130048031 | 11703932 | 130017033 | 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.183A>T | c.183A>T | 2017-05-11 | 3)receiveddate | 2017-05-02 | 2017-05-11 | p.Gln61His | 1 | p.Gln61His | Pyrosequencing | Birmingham (molecular lab) |
| 130048032 | 11744096 | 130017034 | 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 | 2019-10-19 | 1)authoriseddate | 2019-10-24 | 2019-10-19 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048033 | 11283306 | 130017035 | 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 | 2016-07-03 | 1)authoriseddate | 2016-06-24 | 2016-07-03 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048036 | 11560695 | 130017038 | 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 | 2016-07-16 | 1)authoriseddate | 2016-08-03 | 2016-07-16 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130048037 | 10355570 | 130017039 | 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 | 2019-09-16 | 1)authoriseddate | 2019-09-13 | 2019-09-16 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048038 | 10077408 | 130017040 | 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 | 2019-11-10 | 3)receiveddate | 2019-11-23 | 2019-11-10 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048039 | 11949166 | 130017041 | 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 | 2019-05-19 | 1)authoriseddate | 2019-05-18 | 2019-05-20 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130048042 | 11893260 | 130017044 | 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 | 2019-09-19 | 1)authoriseddate | 2019-09-08 | 2020-10-31 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048044 | 10393023 | 130017046 | 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 | 2019-01-01 | 3)receiveddate | 2018-12-21 | 2019-01-01 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048045 | 11283971 | 130017047 | 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 | 3)receiveddate | 2019-09-29 | 2019-09-02 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048047 | 10768626 | 130017049 | 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.183A>C | c.183A>C | 2017-11-06 | 3)receiveddate | 2018-11-02 | 2017-11-06 | p.Gln61His | 1 | p.Gln61His | Pyrosequencing | Birmingham (molecular lab) |
| 130048048 | 11326693 | 130017050 | 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 | 2019-09-07 | 1)authoriseddate | 2019-08-17 | 2019-09-07 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048050 | 10449609 | 130017052 | 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 | 2019-06-07 | 1)authoriseddate | 2019-06-27 | 2019-06-07 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048051 | 11111277 | 130017053 | 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 | 2018-03-08 | 1)authoriseddate | 2018-02-24 | 2018-03-08 | null | 0 | null | Pyrosequencing | Exeter (molecular lab) |
| 130048052 | 11305512 | 130017054 | 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>C | c.34G>C | 2018-03-23 | 1)authoriseddate | 2018-04-16 | 2018-03-23 | p.Gly12Arg | 1 | p.Gly12Arg | Pyrosequencing | Leeds (molecular lab) |
| 130048053 | 11104362 | 130017055 | 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 | 2018-01-24 | 3)receiveddate | 2017-12-26 | 2018-01-24 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130048054 | 10490767 | 130017056 | 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.35G>T | c.35G>T | 2019-07-23 | 1)authoriseddate | 2019-06-16 | 2019-07-23 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130048055 | 11486362 | 130017057 | 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 | 2018-12-25 | 1)authoriseddate | 2018-12-21 | 2018-12-25 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048056 | 11910937 | 130017058 | 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 | 2019-02-07 | 1)authoriseddate | 2019-03-01 | 2019-02-07 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048057 | 11351035 | 130017059 | 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 | 2019-08-28 | 1)authoriseddate | 2019-09-21 | 2019-08-28 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048060 | 11743121 | 130017062 | 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 | 2019-03-01 | 1)authoriseddate | 2019-03-11 | 2019-03-01 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130048061 | 10771979 | 130017063 | 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 | 2018-06-16 | 1)authoriseddate | 2018-07-10 | 2018-06-16 | null | 0 | null | Pyrosequencing | Leeds (molecular lab) |
| 130048062 | 11665733 | 130017064 | 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 | 2018-08-18 | 3)receiveddate | 2018-08-23 | 2018-08-18 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048063 | 10447947 | 130017065 | 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.34G>A | c.34G>A | 2017-04-25 | 3)receiveddate | 2017-04-23 | 2017-04-25 | p.(Gly12Ser) | 1 | p.(Gly12Ser) | Pyrosequencing | Birmingham (molecular lab) |
| 130048064 | 10568820 | 130017066 | 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 | 2018-03-19 | 1)authoriseddate | 2018-03-05 | 2018-03-19 | null | 0 | null | Pyrosequencing | Manchester (molecular lab) |
| 130048065 | 11443691 | 130017067 | 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 | 2019-10-04 | 1)authoriseddate | 2019-08-26 | 2019-10-04 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048066 | 10853830 | 130017068 | 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 | 2018-07-23 | 1)authoriseddate | 2018-08-18 | 2018-07-23 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048067 | 11883640 | 130017069 | 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.34G>T | c.34G>T | 2017-02-24 | 1)authoriseddate | 2016-12-23 | 2017-02-24 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |
| 130048069 | 10609530 | 130017071 | 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 | 2016-08-25 | 3)receiveddate | 2016-08-15 | 2016-08-25 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130048070 | 10711853 | 130017072 | 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 | 2019-11-23 | 3)receiveddate | 2018-11-17 | 2019-11-23 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048071 | 10948072 | 130017073 | 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 | 2019-11-17 | 1)authoriseddate | 2019-12-06 | 2019-11-17 | null | 0 | null | Pyrosequencing | Cambridge (molecular lab) |
| 130048073 | 11372211 | 130017075 | 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 | 2019-08-12 | 1)authoriseddate | 2019-09-08 | 2019-08-12 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048074 | 10839731 | 130017076 | 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 | 2019-11-23 | 1)authoriseddate | 2019-12-20 | 2019-11-23 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Manchester (molecular lab) |
| 130048075 | 10015370 | 130017077 | 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 | 2017-05-07 | 3)receiveddate | 2017-05-04 | 2017-05-07 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130048076 | 10279459 | 130017078 | 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 | 2019-09-04 | 3)receiveddate | 2019-08-13 | 2019-09-04 | p.(Gly12Ala) | 1 | p.(Gly12Ala) | Pyrosequencing | Birmingham (molecular lab) |
| 130048077 | 10923594 | 130017079 | 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 | 2017-07-23 | 3)receiveddate | 2017-08-05 | 2017-08-23 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048078 | 10680811 | 130017080 | 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.35G>A,c.35G>A | multiple | 2016-08-04 | 1)authoriseddate | 2016-08-08 | 2016-08-04 | p.(Gln61Leu) | 1 | p.(Gln61Leu) | Pyrosequencing | Leeds (molecular lab) |
| 130048079 | 11655371 | 130017081 | 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 | 2016-09-06 | 1)authoriseddate | 2016-09-02 | 2016-09-06 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048082 | 10621997 | 130017084 | 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 | 2019-10-08 | 3)receiveddate | 2019-08-18 | 2019-10-08 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130048083 | 11128968 | 130017085 | 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 | 2016-05-13 | 1)authoriseddate | 2016-05-06 | 2016-05-13 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048084 | 10147104 | 130017086 | 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 | 2018-10-06 | 3)receiveddate | 2018-10-31 | 2018-10-06 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048085 | 10456794 | 130017087 | 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.182A>G | c.182A>G | 2018-05-01 | 1)authoriseddate | 2018-04-16 | 2018-05-01 | p.(Gly12Ala),p.(Gly12Ala) | 1 | p.(Gly12Ala),p.(Gly12Ala) | Pyrosequencing | Birmingham (molecular lab) |
| 130048086 | 10316324 | 130017088 | 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 | 2019-07-06 | 1)authoriseddate | 2019-07-08 | 2019-07-06 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048087 | 11867902 | 130017089 | 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.34G>A | c.34G>A | 2018-05-02 | 3)receiveddate | 2018-05-30 | 2018-05-02 | p.(Gly12Ser) | 1 | p.(Gly12Ser) | Pyrosequencing | Birmingham (molecular lab) |