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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130048531 | 11778659 | 130017542 | 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 | 2018-05-24 | 3)receiveddate | 2018-04-26 | 2018-05-24 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130048532 | 11380446 | 130017543 | 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 | 2018-11-23 | 3)receiveddate | 2018-12-16 | 2018-11-23 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048533 | 10885110 | 130017544 | 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 | 2019-10-10 | 1)authoriseddate | 2019-09-16 | 2019-10-10 | null | 0 | null | Pyrosequencing | Cambridge (molecular lab) |
| 130048534 | 10252333 | 130017545 | 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 | 2019-03-25 | 3)receiveddate | 2019-04-23 | 2019-03-25 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048537 | 10669229 | 130017548 | 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 | 2019-05-30 | 1)authoriseddate | 2019-05-17 | 2019-05-30 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048538 | 11704080 | 130017549 | KRAS | 47 | 1 | 2 | 1 | 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.34G>C | c.34G>C | 2017-04-07 | 3)receiveddate | 2017-03-15 | 2017-04-07 | p.(Gly12Arg) | 1 | p.(Gly12Arg) | Pyrosequencing | Birmingham (molecular lab) |
| 130048540 | 10541102 | 130017551 | 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>T | c.35G>T | 2018-03-22 | 3)receiveddate | 2018-04-19 | 2018-03-22 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130048542 | 10434013 | 130017553 | 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 | 2019-08-04 | 3)receiveddate | 2019-09-01 | 2019-08-04 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130048543 | 11415224 | 130017554 | 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 | 2018-08-02 | 1)authoriseddate | 2018-08-01 | 2018-08-02 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048544 | 11839987 | 130017555 | 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 | 2019-08-15 | 3)receiveddate | 2019-09-13 | 2019-08-15 | p.Ala146Thr | 1 | p.Ala146Thr | Pyrosequencing | Birmingham (molecular lab) |
| 130048545 | 11590195 | 130017556 | 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 | 2019-02-12 | 1)authoriseddate | 2019-03-11 | 2019-02-12 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130048546 | 10258224 | 130017557 | 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 | 2017-12-03 | 1)authoriseddate | 2017-11-28 | 2017-12-03 | null | 0 | null | Pyrosequencing | Bristol (molecular lab) |
| 130048547 | 11956230 | 130017558 | 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.38G>A | c.38G>A | 2016-07-11 | 1)authoriseddate | 2016-07-11 | 2016-07-11 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130048549 | 10975998 | 130017561 | 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 | 2017-09-27 | 3)receiveddate | 2017-10-18 | 2017-09-27 | p.G13D | 1 | p.G13D | Pyrosequencing | Birmingham (molecular lab) |
| 130048551 | 11207423 | 130017563 | 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 | 2018-12-23 | 1)authoriseddate | 2019-01-12 | 2018-12-23 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Manchester (molecular lab) |
| 130048552 | 10061750 | 130017564 | 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 | 2019-05-01 | 3)receiveddate | 2019-05-30 | 2019-05-01 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130048553 | 11757555 | 130017565 | 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 | 2018-01-20 | 3)receiveddate | 2018-01-09 | 2018-01-20 | p.Gly12Ser | 1 | p.Gly12Ser | Pyrosequencing | Birmingham (molecular lab) |
| 130048556 | 10934676 | 130017568 | 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 | 2016-12-07 | 3)receiveddate | 2017-01-05 | 2016-12-07 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048557 | 11421181 | 130017569 | 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 | 2019-11-07 | 1)authoriseddate | 2019-12-05 | 2019-11-07 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048558 | 10388941 | 130017570 | 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 | 2019-04-30 | 1)authoriseddate | 2019-04-18 | 2019-04-30 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048559 | 11558905 | 130017571 | 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 | 2017-07-19 | 1)authoriseddate | 2017-08-07 | 2017-07-19 | null | 0 | null | Pyrosequencing | Exeter (molecular lab) |
| 130048560 | 10966497 | 130017572 | 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 | 2019-06-03 | 3)receiveddate | 2019-07-01 | 2019-06-03 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130048561 | 10167966 | 130017573 | 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 | 2018-11-29 | 1)authoriseddate | 2018-10-02 | 2018-11-29 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048562 | 11126793 | 130017574 | 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 | 2019-01-14 | 3)receiveddate | 2019-01-27 | 2019-01-14 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048563 | 11496935 | 130017575 | 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 | 2018-11-25 | 3)receiveddate | 2018-12-19 | 2018-11-25 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Bristol (molecular lab) |
| 130048564 | 10838519 | 130017576 | 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 | 2018-01-13 | 3)receiveddate | 2018-01-16 | 2018-01-13 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048565 | 10666161 | 130017577 | 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 | 2017-06-02 | 1)authoriseddate | 2017-06-28 | 2017-06-02 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048566 | 11557832 | 130017578 | 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 | 2019-05-29 | 1)authoriseddate | 2019-06-14 | 2019-05-29 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048567 | 11609553 | 130017579 | 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 | 2019-12-18 | 3)receiveddate | 2017-12-16 | 2019-12-18 | null | 0 | null | Pyrosequencing | Bristol (molecular lab) |
| 130048568 | 10322901 | 130017580 | 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 | 2018-01-31 | 1)authoriseddate | 2018-02-20 | 2018-01-31 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Manchester (molecular lab) |
| 130048569 | 11963637 | 130017581 | 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 | 2016-12-11 | 3)receiveddate | 2016-11-27 | 2016-12-11 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048571 | 10780531 | 130017583 | 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 | 2019-07-08 | 1)authoriseddate | 2018-09-19 | 2019-07-08 | p.(Ala146Thr) | 1 | p.(Ala146Thr) | Pyrosequencing | Birmingham (molecular lab) |
| 130048573 | 10370371 | 130017585 | 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 | 2019-12-14 | 1)authoriseddate | 2019-12-01 | 2019-12-14 | p.Gly13Asp | 1 | p.Gly13Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130048574 | 11107690 | 130017586 | 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 | 2019-07-18 | 3)receiveddate | 2017-12-30 | 2019-07-18 | p.Gln61His | 1 | p.Gln61His | Pyrosequencing | Birmingham (molecular lab) |
| 130048575 | 10232926 | 130017587 | 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 | 2017-07-16 | 3)receiveddate | 2017-08-14 | 2017-07-16 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048576 | 11482260 | 130017588 | 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 | 2019-10-15 | 3)receiveddate | 2019-09-13 | 2019-10-15 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |
| 130048577 | 10526268 | 130017589 | 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 | 2019-09-19 | 1)authoriseddate | 2019-09-11 | 2019-09-19 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048578 | 10057828 | 130017590 | 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 | 2018-07-28 | 3)receiveddate | 2018-08-26 | 2018-07-28 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048579 | 10223330 | 130017591 | 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 | 2017-11-19 | 3)receiveddate | 2017-12-10 | 2017-11-19 | p.Gly12Asp | 1 | p.Gly12Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130048580 | 11470788 | 130017592 | 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 | 2017-08-19 | 3)receiveddate | 2017-05-31 | 2017-10-12 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048583 | 11150288 | 130017595 | 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 | 2018-06-18 | 1)authoriseddate | 2017-05-11 | 2018-06-18 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048584 | 10681912 | 130017596 | 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 | 2019-10-12 | 3)receiveddate | 2019-05-02 | 2019-10-12 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048585 | 10799968 | 130017597 | KRAS | 47 | 1 | 1 | 1 | f:not_tested | f:not_tested | 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 | 2019-06-23 | 3)receiveddate | 2019-07-22 | 2019-06-23 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048586 | 11833076 | 130017598 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 0 | c:borderline_a_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 1 | c.35G>A | c.35G>A | 2019-03-22 | 3)receiveddate | 2019-02-04 | 2019-04-03 | p.(Gln22Lys) | 1 | p.(Gln22Lys) | Pyrosequencing | Birmingham (molecular lab) |
| 130048587 | 11651298 | 130017599 | 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 | 2016-07-27 | 1)authoriseddate | 2016-07-31 | 2016-07-27 | p.(Gly12Ala) | 1 | p.(Gly12Ala) | Pyrosequencing | Birmingham (molecular lab) |
| 130048589 | 10065270 | 130017601 | 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 | 2016-08-06 | 1)authoriseddate | 2016-08-20 | 2016-08-06 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130048590 | 11403349 | 130017602 | 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 | 2018-07-12 | 2018-07-18 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048592 | 10852945 | 130017604 | KRAS | 47 | 2 | 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.183A>T | c.183A>T | 2017-07-17 | 1)authoriseddate | 2017-04-15 | 2017-07-17 | p.(Gln61His) | 1 | p.(Gln61His) | Pyrosequencing | Leeds (molecular lab) |
| 130048594 | 10277004 | 130017606 | 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 | 2017-02-25 | 1)authoriseddate | 2017-02-15 | 2017-02-25 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130048595 | 11427119 | 130017607 | 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 | 2016-02-01 | 3)receiveddate | 2016-02-03 | 2016-02-01 | p.(Ala146Thr) | 1 | p.(Ala146Thr) | Pyrosequencing | Birmingham (molecular lab) |