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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130047944 | 11858954 | 130016946 | 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 | 2018-09-24 | 1)authoriseddate | 2018-10-04 | 2018-09-24 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130047945 | 10874663 | 130016947 | 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 | 2018-04-18 | 3)receiveddate | 2018-04-30 | 2018-04-18 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047946 | 11918365 | 130016948 | 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 | 2019-09-04 | 1)authoriseddate | 2019-10-04 | 2019-09-04 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130047947 | 11112984 | 130016949 | 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 | 2017-05-29 | 3)receiveddate | 2017-04-24 | 2017-06-10 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047948 | 10038780 | 130016950 | 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 | 2019-03-22 | 1)authoriseddate | 2019-04-19 | 2019-03-22 | p.Gly13Asp | 1 | p.Gly13Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130047949 | 11713506 | 130016951 | 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 | 2019-05-13 | 1)authoriseddate | 2019-06-01 | 2019-05-13 | p.(Ala146Thr) | 1 | p.(Ala146Thr) | Pyrosequencing | Birmingham (molecular lab) |
| 130047950 | 11344809 | 130016952 | 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 | 2018-06-30 | 3)receiveddate | 2018-03-05 | 2018-06-30 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047951 | 10165259 | 130016953 | 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 | 2018-10-17 | 1)authoriseddate | 2018-07-21 | 2018-10-17 | p.(Ala146Thr) | 1 | p.(Ala146Thr) | Pyrosequencing | Nottingham (molecular lab) |
| 130047952 | 11311923 | 130016954 | 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 | 2018-08-21 | 3)receiveddate | 2018-09-19 | 2018-08-21 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130047953 | 10788485 | 130016955 | 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 | 2018-01-21 | 3)receiveddate | 2018-01-25 | 2018-01-21 | p.Gln61Leu | 1 | p.Gln61Leu | Pyrosequencing | Birmingham (molecular lab) |
| 130047954 | 11952828 | 130016956 | 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 | 2017-05-05 | 1)authoriseddate | 2017-05-13 | 2017-05-05 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130047955 | 11044971 | 130016957 | 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 | 2017-08-05 | 1)authoriseddate | 2017-02-21 | 2017-08-05 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Royal Marsden (molecular lab) |
| 130047956 | 10511838 | 130016958 | 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 | 2017-08-18 | 1)authoriseddate | 2017-09-13 | 2017-08-18 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047957 | 10688604 | 130016959 | 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 | 2016-03-06 | 1)authoriseddate | 2016-04-03 | 2016-03-06 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130047958 | 10024975 | 130016960 | 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 | 3)receiveddate | 2019-07-10 | 2019-07-07 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047959 | 11840549 | 130016961 | 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 | 2018-03-24 | 1)authoriseddate | 2018-04-03 | 2018-03-24 | p.Gly12Ser | 1 | p.Gly12Ser | Pyrosequencing | Leeds (molecular lab) |
| 130047960 | 10507241 | 130016962 | 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 | 2019-02-03 | 3)receiveddate | 2019-02-10 | 2019-02-03 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047961 | 11317846 | 130016963 | 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 | 2019-03-27 | 1)authoriseddate | 2017-06-17 | 2019-03-27 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047962 | 10349693 | 130016964 | 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.34_35delinsTA | c.34_35delinsTA | 2019-04-17 | 1)authoriseddate | 2019-03-17 | 2019-04-17 | p.(Gln22Lys) | 1 | p.(Gln22Lys) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130047963 | 10433029 | 130016965 | 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.34G>A,c.38G>A | multiple | 2019-07-02 | 3)receiveddate | 2019-06-16 | 2019-07-02 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |
| 130047965 | 10215160 | 130016967 | 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 | 2019-07-18 | 1)authoriseddate | 2016-03-23 | 2019-07-18 | p.Gly12Ala | 1 | p.Gly12Ala | Pyrosequencing | Nottingham (molecular lab) |
| 130047966 | 10878552 | 130016968 | 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 | 2019-12-19 | 1)authoriseddate | 2019-09-04 | 2019-12-19 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047967 | 10628315 | 130016969 | 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 | 2019-09-11 | 1)authoriseddate | 2019-09-14 | 2019-09-11 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047968 | 10426929 | 130016970 | 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 | 2016-06-27 | 1)authoriseddate | 2016-06-12 | 2016-06-27 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130047969 | 11459870 | 130016971 | 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 | 2 | c.175G>A,c.175G>A | multiple | 2018-10-05 | 1)authoriseddate | 2018-11-01 | 2018-10-05 | p.(Gly13Cys) | 1 | p.(Gly13Cys) | Pyrosequencing | Birmingham (molecular lab) |
| 130047970 | 11503415 | 130016972 | 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 | 2017-04-07 | 1)authoriseddate | 2017-05-05 | 2017-04-07 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047971 | 10084522 | 130016973 | KRAS | 47 | 1 | 2 | 1 | a:abnormal,a:abnormal,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 | 2017-12-20 | 3)receiveddate | 2017-12-17 | 2017-12-20 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130047972 | 10547987 | 130016974 | 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 | 2018-04-24 | 3)receiveddate | 2018-04-29 | 2018-04-24 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Bristol (molecular lab) |
| 130047973 | 10736031 | 130016975 | 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 | 2019-09-05 | 1)authoriseddate | 2019-09-19 | 2019-09-05 | null | 0 | null | Pyrosequencing | Cambridge (molecular lab) |
| 130047974 | 10807150 | 130016976 | 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 | 2017-05-16 | 3)receiveddate | 2017-04-21 | 2017-05-16 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047975 | 10778110 | 130016977 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 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 | 2019-11-30 | 1)authoriseddate | 2019-11-20 | 2019-11-30 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047976 | 11316611 | 130016978 | 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 | 2019-08-10 | 2)requesteddate | 2019-06-21 | 2019-08-10 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130047977 | 11535003 | 130016979 | 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 | 2018-12-17 | 1)authoriseddate | 2018-08-06 | 2018-12-17 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047978 | 11931417 | 130016980 | 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 | 2019-04-18 | 1)authoriseddate | 2019-03-22 | 2019-04-18 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130047979 | 10877622 | 130016981 | 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 | 2018-01-11 | 3)receiveddate | 2018-01-03 | 2018-01-11 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047980 | 11028819 | 130016982 | 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 | 2018-07-24 | 3)receiveddate | 2018-07-28 | 2018-07-24 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047981 | 11443762 | 130016983 | 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 | 2019-09-12 | 3)receiveddate | 2019-09-12 | 2019-09-12 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130047982 | 10848948 | 130016984 | 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 | 2019-11-24 | 1)authoriseddate | 2019-11-13 | 2019-11-24 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Royal Marsden (molecular lab) |
| 130047983 | 11999587 | 130016985 | 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 | 2018-07-18 | 1)authoriseddate | 2018-07-31 | 2018-07-18 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047984 | 10518195 | 130016986 | 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 | 2019-07-29 | 2019-07-21 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130047985 | 11961804 | 130016987 | 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 | 2018-04-20 | 3)receiveddate | 2018-04-26 | 2018-04-20 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047986 | 10890780 | 130016988 | 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 | 2017-09-27 | 2)requesteddate | 2017-09-10 | 2017-09-27 | p.Gly12Ser | 1 | p.Gly12Ser | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130047987 | 11639154 | 130016989 | 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 | 2018-03-04 | 2)requesteddate | 2018-03-13 | 2018-03-04 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Bristol (molecular lab) |
| 130047988 | 11434735 | 130016990 | 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 | 2018-01-01 | 3)receiveddate | 2018-01-13 | 2018-01-07 | p.Gly12Ala | 1 | p.Gly12Ala | Pyrosequencing | Birmingham (molecular lab) |
| 130047989 | 11929136 | 130016991 | 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 | 2019-06-19 | 2)requesteddate | 2019-07-12 | 2019-06-19 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047990 | 11798269 | 130016992 | 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 | 2018-09-11 | 1)authoriseddate | 2018-09-22 | 2018-09-11 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047991 | 10233730 | 130016993 | 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 | 2018-07-15 | 3)receiveddate | 2018-06-24 | 2018-07-15 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047992 | 11575286 | 130016994 | KRAS | 47 | 1 | 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 | 2016-03-13 | 1)authoriseddate | 2016-03-22 | 2016-03-13 | null | 0 | null | Pyrosequencing | Cambridge (molecular lab) |
| 130047993 | 11862577 | 130016995 | 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 | 2019-01-24 | 3)receiveddate | 2019-02-09 | 2019-02-01 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047994 | 11693639 | 130016996 | 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 | 2019-07-20 | 3)receiveddate | 2019-08-04 | 2019-07-20 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |